ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.283C>T (p.Arg95Ter) (rs1602070472)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004914 SCV001164421 pathogenic Focal dermal hypoplasia 2018-12-03 criteria provided, single submitter research The heterozygous p.Arg95Ter variant in PORCN was identified by our study in one individual with focal dermal hypoplasia. Trio exome analysis showed this variant to be de novo. The p.Arg95Ter variant in PORCN has been reported in 2 additional individuals, one with de novo inheritance, with focal dermal hypoplasia in the literature (PMID: 19586929, 19309688). This variant was absent from large population studies. This nonsense variant leads to a premature termination codon at position 95, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the PORCN gene is an established disease mechanism for focal dermal hypoplasia. In summary, the p.Arg95Ter variant is pathogenic based off of our findings, a de novo report in the literature, and ClinVar. ACMG/AMP Criteria applied: PM2, PVS1, PS2, PM6 (Richards 2015).

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