ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.541G>C (p.Val181Leu) (rs879253909)

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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 RCV001289398 SCV001477184 likely pathogenic not provided 2020-02-20 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. Located in a critically important domain of the protein.
Inherited Neuropathy Consortium RCV000789929 SCV000929314 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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