ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) (rs556581174)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516323 SCV000613395 likely pathogenic not provided 2019-07-16 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/265258 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. One de novo case with parental identity confirmed.

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