Submissions for variant NM_000089.4(COL1A2):c.3792C>T (p.Ala1264=)

gnomAD frequency: 0.00010  dbSNP: rs745413783

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000615308	SCV000719185	likely benign	not specified	2017-05-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262380	SCV001440224	uncertain significance	Ehlers-danlos syndrome, arthrochalasia type, 2	2019-01-01	criteria provided, single submitter	clinical testing
Invitae	RCV002232588	SCV001617416	likely benign	Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	2024-01-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000631540	SCV002545526	likely benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	COL1A2: BP4, BP7
Ambry Genetics	RCV002368056	SCV002624631	likely benign	Cardiovascular phenotype	2019-06-06	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.
PreventionGenetics, part of Exact Sciences	RCV003962761	SCV004779282	likely benign	COL1A2-related disorder	2022-07-13	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).