ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.174C>T (p.Ala58=)

gnomAD frequency: 0.00009  dbSNP: rs368563182
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226758 SCV000284317 benign Gorlin syndrome 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566146 SCV000674463 likely benign Hereditary cancer-predisposing syndrome 2017-04-04 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.
Sema4, Sema4 RCV000566146 SCV002526821 benign Hereditary cancer-predisposing syndrome 2021-05-28 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004547582 SCV004767750 likely benign PTCH1-related disorder 2019-03-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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