Sentence examples for mutation is pathogenic from inspiring English sources

Although this is a highly conserved residue across mammals, there is no indication this mutation is pathogenic, and the individual was considered to have been correctly identified as a true healthy control.

Overall, it was predicted that the A85V mutation is pathogenic.

Several reasons strongly suggest that this mutation is pathogenic.

Together, these results confirm that the GRN g.10974_10975insCC mutation is pathogenic.

While the effects as discussed below suggest the possibility that this novel mutation is pathogenic, the genetic support is inconclusive.

If there is consensus in the GeneTalk community that a certain mutation is pathogenic and its annotation is trustworthy, this mutation is added to the annotation track 'pathogenic'pathogenic

Furthermore, the hMLH1-G67E mutation has not been reported in 1688 individuals studied in the general population (Barnetson et al, 2008), consistent with the mutation being pathogenic.

Therefore, it is likely that truly null mutations of NBS1 (in homozygous state) do not cause Nijmegen syndrome, but only those mutations that encode partially active Nibrin (such as the 657del5 mutation) are pathogenic for the syndrome.

The location of the N602D mutation, its evolutionary conservation (Table 1) and the previous report of an identical mutation in an autosomal dominant cerebellar ataxia family strongly support this mutation being pathogenic.

Considering what is known to date about the NF2 gene mutational spectrum in different tumors, it can be assumed that at least two of the latter three mutations (M46 – aberrant splicing and M115 – nonsense mutation) are pathogenic.

Bioinformatics analysis predicted that this missense mutation was pathogenic, but as it had not previously been described and family members were not initially available for segregation analysis, we performed functional studies which confirmed its pathogenicity (Fig. 2).