ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)

gnomAD frequency: 0.00005  dbSNP: rs771222407
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628354 SCV000749251 benign Gorlin syndrome 2024-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431839 SCV002741065 likely benign Hereditary cancer-predisposing syndrome 2023-02-07 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.
Fulgent Genetics, Fulgent Genetics RCV002492930 SCV002782694 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2022-04-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478333 SCV004219185 likely benign not provided 2023-07-07 criteria provided, single submitter clinical testing
GeneDx RCV003478333 SCV005388880 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 26580448, 8906794, 24807215)

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