ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=)

gnomAD frequency: 0.00053  dbSNP: rs149790711
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461670 SCV000554712 benign Ehlers-Danlos syndrome, type 4 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001178581 SCV000738398 benign Familial thoracic aortic aneurysm and aortic dissection 2015-09-09 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.
Color Diagnostics, LLC DBA Color Health RCV001178581 SCV001343057 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001538705 SCV001756388 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533207 SCV004709322 likely benign COL3A1-related disorder 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).
All of Us Research Program, National Institutes of Health RCV000461670 SCV004827558 likely benign Ehlers-Danlos syndrome, type 4 2024-01-03 criteria provided, single submitter clinical testing

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