ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.253C>A (p.Pro85Thr)

dbSNP: rs2108029577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886391 SCV002154955 uncertain significance not provided 2022-03-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 85 of the ATP6V1A protein (p.Pro85Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP6V1A-related conditions.

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