ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)

gnomAD frequency: 0.00002  dbSNP: rs759650260
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179354 SCV001344002 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-30 criteria provided, single submitter clinical testing
Invitae RCV001401008 SCV001602819 likely benign Ehlers-Danlos syndrome, type 4 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001179354 SCV002701071 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-17 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 RCV003975473 SCV004795072 likely benign COL3A1-related condition 2019-03-27 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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