ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn)

gnomAD frequency: 0.00088  dbSNP: rs56173896
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000161931 SCV000211915 benign Gorlin syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001697056 SCV000535221 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000569148 SCV000674458 likely benign Hereditary cancer-predisposing syndrome 2018-11-28 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001697056 SCV004219190 benign not provided 2022-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551375 SCV004751237 likely benign PTCH1-related disorder 2019-11-14 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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