ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly)

gnomAD frequency: 0.00036  dbSNP: rs199476092
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001083878 SCV000166305 benign Gorlin syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563051 SCV000674517 benign Hereditary cancer-predisposing syndrome 2016-11-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000034565 SCV001855881 benign not provided 2020-04-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31180159, 22995991, 24204797, 22313357, 22703879, 11941477, 24728327)
Sema4, Sema4 RCV000563051 SCV002526850 benign Hereditary cancer-predisposing syndrome 2020-04-28 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121886 SCV002773939 benign not specified 2021-08-16 criteria provided, single submitter clinical testing
OMIM RCV000008706 SCV000028915 pathogenic Holoprosencephaly 7 2002-04-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034565 SCV000043455 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121886 SCV000086089 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004547467 SCV004754073 benign PTCH1-related disorder 2020-01-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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