Submissions for variant NM_000393.5(COL5A2):c.261G>A (p.Thr87=)

gnomAD frequency: 0.00108  dbSNP: rs142044596

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124522	SCV000167955	benign	not specified	2013-05-10	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.
Illumina Laboratory Services, Illumina	RCV000289364	SCV000425671	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV001082879	SCV000558988	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312869	SCV000738379	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000659468	SCV000781283	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757126	SCV000885248	benign	not provided	2017-07-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142047	SCV001302445	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277242	SCV002565821	benign	Ehlers-Danlos syndrome	2021-09-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757126	SCV003916221	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	COL5A2: BP4, BP7, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000124522	SCV004028672	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000757126	SCV001809469	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000757126	SCV001966787	likely benign	not provided		no assertion criteria provided	clinical testing