ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr)

gnomAD frequency: 0.00003  dbSNP: rs755289850
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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 RCV002232858 SCV000815010 benign Ehlers-Danlos syndrome, classic type, 1 2024-03-24 criteria provided, single submitter clinical testing
GeneDx RCV004812354 SCV005437215 uncertain significance not provided 2024-06-11 criteria provided, single submitter clinical testing 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; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272)

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