Submissions for variant NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)

gnomAD frequency: 0.00083  dbSNP: rs142274954

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000988235	SCV000166293	benign	Gorlin syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Paul Sabatier University EA-4555, Paul Sabatier University	RCV000207385	SCV000262553	likely benign	Anophthalmia-microphthalmia syndrome	2013-01-01	criteria provided, single submitter	clinical testing	rare variant, functional studies demonstrating absence of deleterious effect on protein.
GeneDx	RCV000122998	SCV000514295	likely benign	not provided	2019-02-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16231297, 16405370, 23334667, 26893459, 26559152, 28717660, 25527561, 24728327)
Ambry Genetics	RCV000575231	SCV000674485	benign	Hereditary cancer-predisposing syndrome	2018-03-28	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Mendelics	RCV000988235	SCV001137876	likely benign	Gorlin syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168688	SCV001331297	likely benign	Holoprosencephaly 7	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000988235	SCV001331298	likely benign	Gorlin syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000121906	SCV002046794	benign	not specified	2021-04-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575231	SCV002526805	likely benign	Hereditary cancer-predisposing syndrome	2020-09-08	criteria provided, single submitter	curation
ITMI	RCV000121906	SCV000086110	not provided	not specified	2013-09-19	no assertion provided	reference population
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.	RCV000201284	SCV000222722	uncertain significance	Hirschsprung disease, susceptibility to, 1	2015-04-01	no assertion criteria provided	research