ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)

gnomAD frequency: 0.00002  dbSNP: rs767601899
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628378 SCV000749275 likely benign Gorlin syndrome 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764850 SCV000896006 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018662 SCV001179926 likely benign Hereditary cancer-predisposing syndrome 2022-08-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001018662 SCV002527364 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-12 criteria provided, single submitter curation
GeneDx RCV003441975 SCV004167815 uncertain significance not provided 2023-04-28 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, 34638259)

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