ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)

gnomAD frequency: 0.00001  dbSNP: rs753339980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254377 SCV000302241 likely benign not specified criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144174 SCV003833729 uncertain significance not provided 2022-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003593944 SCV004291163 benign Ehlers-Danlos syndrome, classic type, 1 2023-06-10 criteria provided, single submitter clinical testing
GeneDx RCV003144174 SCV005385548 uncertain significance not provided 2024-01-08 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); Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22696272)

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