ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys)

gnomAD frequency: 0.00002  dbSNP: rs138458908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228558 SCV001400959 uncertain significance Syndromic X-linked intellectual disability Hedera type 2020-02-12 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with ATP6AP2-related conditions. This variant is present in population databases (rs138458908, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 157 of the ATP6AP2 protein (p.Arg157Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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