Submissions for variant NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)

gnomAD frequency: 0.00020  dbSNP: rs368417828

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Paul Sabatier University EA-4555, Paul Sabatier University	RCV000207365	SCV000259128	likely pathogenic	Anophthalmia-microphthalmia syndrome	2013-01-01	criteria provided, single submitter	clinical testing	rare variant, functional studies demonstrating is deleterious effect on protein.
Invitae	RCV000456174	SCV000549106	likely benign	Gorlin syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019083	SCV001180396	likely benign	Hereditary cancer-predisposing syndrome	2020-01-10	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	RCV001019083	SCV002526880	likely benign	Hereditary cancer-predisposing syndrome	2020-12-01	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477708	SCV004219208	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955238	SCV004777525	likely benign	PTCH1-related condition	2023-01-27	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).