Submissions for variant NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)

gnomAD frequency: 0.00075  dbSNP: rs141777954

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197286	SCV000249991	likely benign	not specified	2018-02-02	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	RCV002229472	SCV000284819	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315573	SCV000738689	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-03-29	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.
Mendelics	RCV000986957	SCV001136119	likely benign	Ehlers-Danlos syndrome, classic type	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137059	SCV001296954	likely benign	Ehlers-Danlos syndrome, classic type, 2	2018-03-07	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277502	SCV002565841	likely benign	Ehlers-Danlos syndrome	2019-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003437001	SCV004148279	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COL5A2: BP4, BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000197286	SCV004223708	likely benign	not specified	2023-11-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927821	SCV004742354	benign	COL5A2-related condition	2020-06-23	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).