ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224852 SCV003920882 likely pathogenic Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2021-03-30 criteria provided, single submitter clinical testing GCK NM_000162.3 exon 2 p.Asp42Argfs*7 (c.116_123dup): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents a duplication of 8 nucleotides and creates a premature stop codon 7 amino acids downstream from this location which results in an absent or abnormal protein. Loss of function variants have been reported in association with disease for this gene (Osbak 2009 PMID:19790256, Bansal 2017 PMID:29207974). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant is classified as likely pathogenic.

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