ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)

gnomAD frequency: 0.00016  dbSNP: rs200620662
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167997 SCV000218648 likely benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021641 SCV001183283 likely benign Hereditary cancer-predisposing syndrome 2019-03-25 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.
GeneDx RCV001589046 SCV001816312 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002492679 SCV002799904 likely benign Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2021-09-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552935 SCV004120263 uncertain significance PTCH1-related disorder 2023-03-02 criteria provided, single submitter clinical testing The PTCH1 c.4001G>A variant is predicted to result in the amino acid substitution p.Ser1334Asn. To our knowledge, this variant has not been reported in association with disorders in the literature. This variant is reported in 0.021% of alleles in individuals of European (Non-Finnish) descent in gnomAD ( and is interpreted as likely benign in ClinVar ( Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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