Submissions for variant NM_000093.5(COL5A1):c.1977C>T (p.Asp659=)

dbSNP: rs370766020

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198876	SCV000249740	benign	not specified	2014-12-02	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.
Invitae	RCV002229032	SCV001596952	likely benign	Ehlers-Danlos syndrome, classic type, 1	2023-10-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002229032	SCV002554136	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269979	SCV002554137	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415831	SCV002723533	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-12-10	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000198876	SCV004039226	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430750	SCV004156739	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003927815	SCV004737849	likely benign	COL5A1-related disorder	2023-11-08	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).