ClinVar Miner

Submissions for variant NM_001378183.1(PIEZO2):c.8492G>A (p.Arg2831Gln)

dbSNP: rs587777452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003148862 SCV003837290 likely pathogenic not provided 2022-09-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30285720, 24726473)
OMIM RCV000778125 SCV000914235 pathogenic Gordon syndrome 2019-05-21 no assertion criteria provided literature only

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