ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.74G>A (p.Gly25Glu)

gnomAD frequency: 0.00003  dbSNP: rs774712511
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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 RCV000823669 SCV000964537 likely benign Gorlin syndrome 2023-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001766753 SCV001988828 uncertain significance not provided 2019-07-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002256554 SCV002527361 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-29 criteria provided, single submitter curation
Ambry Genetics RCV002256554 SCV002669001 likely benign Hereditary cancer-predisposing syndrome 2024-05-16 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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