ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.365C>A (p.Pro122His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003445328 SCV004171873 uncertain significance Syndromic X-linked intellectual disability Hedera type criteria provided, single submitter clinical testing The missense c.365C>A (p.Pro122His) variant in ATP6AP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Pro122His variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Pro122His in ATP6AP2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Pro at position 122 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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