Submissions for variant NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)

gnomAD frequency: 0.00062  dbSNP: rs61737719

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000197871	SCV000249742	benign	not specified	2014-10-06	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	RCV001507115	SCV000283478	benign	Ehlers-Danlos syndrome, classic type, 1	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356591	SCV000478539	likely benign	Ehlers-Danlos syndrome type 7A	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000234447	SCV000603159	benign	Ehlers-Danlos syndrome, classic type	2020-02-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315527	SCV000738588	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-03-09	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.
Illumina Laboratory Services, Illumina	RCV000234447	SCV001332567	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	RCV001507115	SCV002554140	benign	Ehlers-Danlos syndrome, classic type, 1	2022-03-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002269982	SCV002554141	benign	Fibromuscular dysplasia, multifocal	2022-03-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277464	SCV002565686	likely benign	Ehlers-Danlos syndrome	2021-01-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500598	SCV002808320	likely benign	Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal	2022-05-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001795315	SCV004156740	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COL5A1: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001795315	SCV002035162	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001795315	SCV002037786	likely benign	not provided		no assertion criteria provided	clinical testing