Submissions for variant NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)

gnomAD frequency: 0.00525  dbSNP: rs62184175

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124511	SCV000167944	benign	not specified	2013-01-23	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	RCV001507166	SCV000284816	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000124511	SCV000304000	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000361816	SCV000425618	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000124511	SCV000708716	benign	not specified	2017-06-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312862	SCV000738356	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-04-27	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	RCV000229584	SCV000781302	likely benign	Ehlers-Danlos syndrome, classic type	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999869	SCV000883666	benign	Ehlers-Danlos syndrome, classic type, 2	2023-11-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999869	SCV001299440	benign	Ehlers-Danlos syndrome, classic type, 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV002262718	SCV002544190	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	COL5A2: BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277236	SCV002565832	benign	Ehlers-Danlos syndrome	2022-05-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124511	SCV004028648	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing