Submissions for variant NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu)

gnomAD frequency: 0.00037  dbSNP: rs145404046

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV000196178	SCV000188742	likely benign	not specified	2015-10-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000766820	SCV000249962	uncertain significance	not provided	2023-04-05	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32161841, 33161638)
Ambry Genetics	RCV002310717	SCV000319685	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-14	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.
Invitae	RCV002228512	SCV000631573	likely benign	Ehlers-Danlos syndrome, classic type, 1	2023-12-30	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659476	SCV000781291	uncertain significance	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277281	SCV002565810	uncertain significance	Ehlers-Danlos syndrome	2021-11-02	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003144137	SCV003833741	uncertain significance	Ehlers-Danlos syndrome, classic type, 2	2019-05-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905244	SCV004720928	likely benign	COL5A2-related condition	2020-07-18	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).