Sentence examples for variants with unknown from inspiring English sources

In addition we detected 9 variants with unknown clinical significance (VUS).

We found 18 pathogenic mutations and 10 variants with unknown clinical significant effect (VUS).

Their coexistence in the same susceptible population is likely to generate appropriate conditions for the emergence of novel reassortant variants, with unknown epizootic and zoonotic potential.

Some of these are well-known and have been discussed extensively, such as increasing data volumes, informed consent procedures and identification of variants with unknown clinical relevance.

Variants with unknown clinical significance in BIC and new changes were subjected to in silico analysis of their deleteriousness, and screened for evidence of pathogenicity in the literature.

Furthermore, there is an insertion/deletion mutation in intron 24 (3′ UTR) of BRCA1 gene that belongs to unclassified variants with unknown effect and was found in one of our study families with five BC patients [ 34].

Moreover, a high frequency of novel genetic variants with an unknown effect on 21OH activity was found and represents a source of uncertainty in 21OHD genetic diagnosis.

Seventeen of these CYP21A2 genetic variants were known to maintain a residual 21-hydroxylase enzyme (21OH) activity, 2 completely impaired it, and 3 were novel variants with an unknown effect on the 21OH activity (Table 1).

A variant with an unknown significance (c.200C>T, p.Ala67Val) was observed in one additional CRC sample.

From more frequent (i.e., represented in three or more patients) variants from both ethnic groups, the intronic disease-associated variant with yet unknown function, c.5461 10T>C, was the only variant detected in both groups with similar allele frequencies, 3.4% in the African American and 4.71% in the European patient group (Table 3).

While the mutations in the analyzed samples were known at the offset, this study exemplifies the necessity to interpret and validate with traditional sequencing potentially pathogenic new variants identified in patients with unknown molecular defects.