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

gnomAD frequency: 0.00088  dbSNP: rs56173896

Total submissions: 5

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: 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	RCV003937480	SCV004751237	likely benign	PTCH1-related condition	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).