ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1251del (p.Ser418fs)

dbSNP: rs2128819092
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002052274 SCV002318890 likely pathogenic Maturity-onset diabetes of the young type 2 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region.It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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