ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) (rs193922268)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029843 SCV000052498 likely pathogenic Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Athena Diagnostics Inc RCV000517698 SCV000613405 likely pathogenic not provided 2019-04-30 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/263740 chr). Statistically enriched in uncharacterized patients compared to unmatched population data. Predicted to have a damaging effect on the protein. One de novo case with parental identity confirmed.

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