ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.870T>C (p.Pro290=)

gnomAD frequency: 0.00005  dbSNP: rs139656817
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726326 SCV000343810 uncertain significance not provided 2016-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000726326 SCV000512715 likely benign not provided 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV002229854 SCV000631614 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446531 SCV002682280 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003967788 SCV004782287 likely benign COL5A2-related condition 2021-03-11 criteria provided, single submitter 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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