Submissions for variant NM_000093.5(COL5A1):c.1158C>T (p.Ser386=)

gnomAD frequency: 0.00194  dbSNP: rs61729497

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000195584	SCV000249781	benign	not specified	2014-06-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001507114	SCV000283470	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311035	SCV000319819	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-07-07	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.
Eurofins Ntd Llc (ga)	RCV000195584	SCV000343214	likely benign	not specified	2016-08-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356708	SCV000478522	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755244	SCV000603191	benign	not provided	2023-03-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001088142	SCV001329810	benign	Ehlers-Danlos syndrome, classic type	2018-01-12	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-Nilou Lab	RCV001507114	SCV002554069	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002270007	SCV002554070	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277472	SCV002565665	likely benign	Ehlers-Danlos syndrome	2021-11-26	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000195584	SCV004039229	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000755244	SCV004156737	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000755244	SCV005228026	likely benign	not provided		criteria provided, single submitter	not provided