Submissions for variant NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr)

gnomAD frequency: 0.21080  dbSNP: rs1800255

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000177438	SCV000167842	benign	not specified	2012-11-13	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.
Eurofins Ntd Llc (ga)	RCV000177438	SCV000229294	benign	not specified	2014-12-18	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000177438	SCV000268913	benign	not specified	2014-11-20	criteria provided, single submitter	clinical testing	p.Ala698Thr in exon 30 of COL3A1: This variant is not expected to have clinical significance because it has been identified in 25% (2190/8600) of European Ameri can chromosomes and 13% (592/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1800255).
PreventionGenetics, part of Exact Sciences	RCV000177438	SCV000302032	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000775991	SCV000317703	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: 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	RCV000395000	SCV000425527	benign	Ehlers-Danlos syndrome, type 4	2018-03-06	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	RCV001811188	SCV000603131	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000775991	SCV000910517	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000395000	SCV001733459	benign	Ehlers-Danlos syndrome, type 4	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000395000	SCV001821889	benign	Ehlers-Danlos syndrome, type 4	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001588818	SCV001821890	benign	Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	2021-07-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276559	SCV002565619	benign	Ehlers-Danlos syndrome	2022-07-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496406	SCV002795892	benign	Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	2021-11-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000395000	SCV004825332	benign	Ehlers-Danlos syndrome, type 4	2024-10-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001811188	SCV005242041	benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000018745	SCV000039028	benign	COLLAGEN TYPE III POLYMORPHISM	1990-10-25	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000177438	SCV001744608	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000177438	SCV001807229	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000177438	SCV001969658	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000395000	SCV003836798	benign	Ehlers-Danlos syndrome, type 4	2022-09-23	no assertion criteria provided	clinical testing