Submissions for variant NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)

gnomAD frequency: 0.00120  dbSNP: rs139229616

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579877	SCV000249990	benign	not provided	2018-01-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11940702, 28152038, 26608033, 28550590)
Invitae	RCV002229097	SCV000284818	likely benign	Ehlers-Danlos syndrome, classic type, 1	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315572	SCV000738693	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-12-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659488	SCV000781304	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137060	SCV001296955	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277501	SCV002565840	likely benign	Ehlers-Danlos syndrome	2019-12-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579877	SCV004148280	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	RCV001727626	SCV004223709	likely benign	not specified	2023-11-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927820	SCV004738281	benign	COL5A2-related disorder	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579877	SCV001808812	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727626	SCV001969936	benign	not specified		no assertion criteria provided	clinical testing