ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)

dbSNP: rs267606973
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857332 SCV002158263 pathogenic not provided 2022-02-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 60 of the PORCN protein (p.Gly60Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with focal dermal hypoplasia (PMID: 17546030, 30022487, 32141364). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 10701). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change affects PORCN function (PMID: 22888000). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011447 SCV000031679 pathogenic Focal dermal hypoplasia 2007-07-01 no assertion criteria provided literature only
GenomeConnect - Invitae Patient Insights Network RCV003483430 SCV004228519 not provided Focal dermal hypoplasia; Anophthalmia-microphthalmia syndrome no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 04-14-2021 by Lab Invitae. This variant was reported as possibly mosaic in this individual. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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