ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.3193G>T (p.Asp1065Tyr)

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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 RCV003338217 SCV004047240 uncertain significance Gordon syndrome criteria provided, single submitter clinical testing The missense variant c.3193G>T (p.Asp1065Tyr) in PIEZO2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp1065Tyr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes and allele frequency of 0.003187% is reported in gnomAD. The amino acid Asp at position 1065 is changed to a Tyr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Asp1065Tyr in PIEZO2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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