Submissions for variant NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)

gnomAD frequency: 0.00608  dbSNP: rs41263773

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000029620	SCV000052272	likely benign	Familial aortopathy	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
GeneDx	RCV001311567	SCV000233330	benign	not provided	2018-08-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18272325, 28655553)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205824	SCV000261740	benign	Ehlers-Danlos syndrome, type 4	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000181054	SCV000302031	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769570	SCV000317349	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-05-17	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	RCV000205824	SCV000425525	benign	Ehlers-Danlos syndrome, type 4	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769570	SCV000900967	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769570	SCV000902704	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001311567	SCV001474542	benign	not provided	2023-11-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311567	SCV001501789	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	COL3A1: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276583	SCV002565617	benign	Ehlers-Danlos syndrome	2022-07-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496448	SCV002813684	benign	Ehlers-Danlos syndrome, type 4; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome	2022-05-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001311567	SCV005262399	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000181054	SCV001932819	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000181054	SCV001969824	benign	not specified		no assertion criteria provided	clinical testing