ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg)

gnomAD frequency: 0.00525  dbSNP: rs62184175
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124511 SCV000167944 benign not specified 2013-01-23 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.
Invitae RCV001507166 SCV000284816 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000124511 SCV000304000 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361816 SCV000425618 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000124511 SCV000708716 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312862 SCV000738356 benign Familial thoracic aortic aneurysm and aortic dissection 2015-04-27 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000229584 SCV000781302 likely benign Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999869 SCV000883666 benign Ehlers-Danlos syndrome, classic type, 2 2023-11-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000999869 SCV001299440 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.
CeGaT Center for Human Genetics Tuebingen RCV002262718 SCV002544190 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing COL5A2: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277236 SCV002565832 benign Ehlers-Danlos syndrome 2022-05-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124511 SCV004028648 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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