ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1264G>C (p.Asp422His)

gnomAD frequency: 0.00001  dbSNP: rs760798318
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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 RCV002233964 SCV000755930 benign Ehlers-Danlos syndrome, classic type, 1 2023-10-12 criteria provided, single submitter clinical testing
GeneDx RCV004721506 SCV005328218 uncertain significance not provided 2023-12-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; 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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