Submissions for variant NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)

gnomAD frequency: 0.00003  dbSNP: rs45535032

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000168115	SCV000218771	likely benign	Gorlin syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021985	SCV001183671	likely benign	Hereditary cancer-predisposing syndrome	2018-04-06	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.
Sema4, Sema4	RCV001021985	SCV002535159	likely benign	Hereditary cancer-predisposing syndrome	2021-09-24	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000034577	SCV004219249	likely benign	not provided	2023-08-14	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034577	SCV000043444	variant of unknown significance	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV004549399	SCV004782696	likely benign	PTCH1-related disorder	2023-12-19	no assertion criteria provided	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).