ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2787G>A (p.Ala929=)

gnomAD frequency: 0.00069  dbSNP: rs151027388
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178480 SCV000230565 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306151 SCV000425634 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001721122 SCV000523516 likely benign not provided 2021-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000634668 SCV000756002 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001143726 SCV001304275 benign Ehlers-Danlos syndrome, classic type, 2 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.
Ambry Genetics RCV002433779 SCV002748278 benign Familial thoracic aortic aneurysm and aortic dissection 2020-04-13 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000178480 SCV004038889 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001721122 SCV005262438 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003967432 SCV004781000 likely benign COL5A2-related disorder 2021-05-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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