ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu)

dbSNP: rs775408408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472439 SCV000549077 benign Gorlin syndrome 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011398 SCV001171712 likely benign Hereditary cancer-predisposing syndrome 2023-01-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000472439 SCV002012401 uncertain significance Gorlin syndrome 2021-08-10 criteria provided, single submitter clinical testing The PTCH1 c.140G>T (p.Arg47Leu) missense change is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). Six of seven in silico tools predict a benign effect of this variant on protein function (BP4), but these predictions have not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with Gorlin syndrome. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, BP4.
GeneDx RCV003329285 SCV004036687 uncertain significance not provided 2023-03-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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