ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1463A>G (p.His488Arg)

gnomAD frequency: 0.00003  dbSNP: rs149305351
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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 RCV002232933 SCV000831504 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-12 criteria provided, single submitter clinical testing
GeneDx RCV004822182 SCV005442959 uncertain significance not provided 2024-07-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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