Sentence examples for mutations of uncertain from inspiring English sources

Rare genetic variants in CFI have been associated with AAMD (9– 11); however, a majority are missense mutations of uncertain clinical relevance.

Personalized therapy for AMD based on an individual's genotype should be the ultimate goal; however, to date the majority of rare CFI genetic variants described in AMD patients are missense mutations of uncertain biologic relevance.

Although these results are very encouraging, the use of these new drugs in clinical practice needs to be carefully evaluated because of such factors as the tolerability profile, the issue of drug-drug interaction, the induction of viral mutations of uncertain significance, and high costs.

A BRCA1 mutation of uncertain significance 4590C>G P1491AA) was also observed.

He was found to have a truncating mutation on MLH1 (IVS7-2A > G) and a separate missense mutation of uncertain significance (V716M).

C32, a control cell line carrying a heterozygous protein truncating mutation of uncertain significance (R278X), showed no decrease in TGIF1 (figure 5B), suggesting that TGIF1 levels in these cells were not significantly influenced by the presence of the monoallelic null allele.

In 1996, the company classified 40 percent of mutations as being of uncertain significance because it did not have enough information to know what they meant.

24 Nevertheless, a major dilemma concerning NGS data for interpreting test results in HCM lies in distinguishing pathogenic mutations from variants of uncertain clinical significance (VUS) or rare nonpathogenic variants.

The ABCC8 mutations/variants and the associated phenotype are presented in Supplementary Tables 1, 2, 3 and 4, see section on supplementary data given at the end of this article, as i) homozygous or compound heterozygous mutations, ii) heterozygous mutations and iii) variants of uncertain significance.

We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes.

Another missense mutation, I157T, is of uncertain significance, since it exhibits defective in vitro phosphorylation of CDC25A and BRCA1 [ 10], yet it is present in 2 6% of the Finnish population where it appears to be associated with only a small, if any, increase in cancer risk.