ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.148del (p.His50fs)

dbSNP: rs886041690
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658822 SCV001873962 pathogenic not provided 2021-08-05 criteria provided, single submitter clinical testing Reported in a patient with MODY in published literature (Alkorta-Aranburu et al., 2014); multiple other family members were noted to have hyperglycemia but segregation analysis was not performed; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25306193)

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