ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2013C>T (p.Pro671=)

gnomAD frequency: 0.00005  dbSNP: rs372082908
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235150 SCV001004912 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001575564 SCV001802587 likely benign not provided 2019-12-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001575564 SCV002506183 likely benign not provided 2022-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415997 SCV002720303 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003965680 SCV004782307 likely benign COL5A1-related condition 2021-08-04 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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