ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys) (rs1602349451)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991854 SCV001143680 likely pathogenic not provided 2019-08-15 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/189336 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Located in a likely critical domain of the protein.
Inherited Neuropathy Consortium RCV000789805 SCV000929189 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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