ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=)

gnomAD frequency: 0.00004  dbSNP: rs759203958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002144643 SCV002416820 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161534 SCV003913083 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-11 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005058048 SCV005725847 benign not specified 2024-11-25 criteria provided, single submitter clinical testing

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