Submissions for variant NM_000393.5(COL5A2):c.2424G>A (p.Pro808=)

gnomAD frequency: 0.00001  dbSNP: rs200019093

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002231325	SCV000631582	likely benign	Ehlers-Danlos syndrome, classic type, 1	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000616811	SCV000717293	likely benign	not specified	2018-03-16	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.
CeGaT Center for Human Genetics Tuebingen	RCV001726219	SCV001962345	likely benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002448652	SCV002735198	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-06-12	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.
PreventionGenetics, part of Exact Sciences	RCV003915505	SCV004730526	likely benign	COL5A2-related condition	2022-05-26	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).