Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598832 | SCV000710514 | uncertain significance | not provided | 2018-02-05 | criteria provided, single submitter | clinical testing | The V431M variant, present in an alternate transcript of the MAPT gene, has not been reportedpreviously as a pathogenic variant, nor as a benign variant, to our knowledge. The V431M variant isobserved in 2/277218 (0.0007%) alleles in large population cohorts (Lek et al., 2016). The V431Mvariant is a conservative amino acid substitution, which is not likely to impact secondary proteinstructure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret V431M as a variant of uncertain significance. |