ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=)

gnomAD frequency: 0.00001  dbSNP: rs757268536
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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 RCV001337962 SCV001531590 likely benign Gorlin syndrome 2024-07-25 criteria provided, single submitter clinical testing
GeneDx RCV002255183 SCV002526529 uncertain significance not provided 2021-12-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002322270 SCV002609215 likely benign Hereditary cancer-predisposing syndrome 2020-06-03 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.

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