Submissions for variant NM_000090.4(COL3A1):c.1851G>A (p.Gln617=)

gnomAD frequency: 0.15955  dbSNP: rs7579903

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124405	SCV000167838	benign	not specified	2012-11-20	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000124405	SCV000268910	benign	not specified	2014-11-20	criteria provided, single submitter	clinical testing	p.Gln617Gln in exon 26 of COL3A1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 15% (1263/8600) of European American chromosomes and 20% (877/4406) of African American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; db SNP rs7579903).
PreventionGenetics, part of Exact Sciences	RCV000124405	SCV000302025	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000771057	SCV000317317	benign	Familial thoracic aortic aneurysm and aortic dissection	2014-11-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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	RCV000274785	SCV000425519	benign	Ehlers-Danlos syndrome, type 4	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812008	SCV000885227	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771057	SCV000902566	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-15	criteria provided, single submitter	clinical testing
Invitae	RCV000274785	SCV001723222	benign	Ehlers-Danlos syndrome, type 4	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000274785	SCV001821884	benign	Ehlers-Danlos syndrome, type 4	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001588975	SCV001821885	benign	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000124405	SCV001807815	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000124405	SCV001975064	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000274785	SCV003836776	benign	Ehlers-Danlos syndrome, type 4	2022-09-23	no assertion criteria provided	clinical testing