ClinVar Miner

Submissions for variant NM_001377265.1(MAPT):c.1516G>A (p.Val506Met)

gnomAD frequency: 0.00001  dbSNP: rs375359117
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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