ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)

gnomAD frequency: 0.00012  dbSNP: rs570091335
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205792 SCV000261497 likely benign Gorlin syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492234 SCV000581074 likely benign Hereditary cancer-predisposing syndrome 2019-05-22 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 RCV000764843 SCV000895999 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800531 SCV002046979 likely benign not specified 2021-05-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000492234 SCV002526862 likely benign Hereditary cancer-predisposing syndrome 2021-06-25 criteria provided, single submitter curation
GeneDx RCV003228911 SCV003925952 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 8906794)
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153488 SCV003843635 likely pathogenic Ovarian cancer 2022-01-01 flagged submission clinical testing

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