ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)

dbSNP: rs137852219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003234900 SCV003933520 pathogenic not provided 2022-12-13 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17546031)
OMIM RCV000011449 SCV000031681 pathogenic Focal dermal hypoplasia 2007-07-01 no assertion criteria provided literature only

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