ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=)

gnomAD frequency: 0.00001  dbSNP: rs775725420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002240291 SCV001668534 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038632 SCV005032404 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-10-19 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.

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