ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1344del (p.Ala449fs) (rs1057524901)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Translational Genomics Laboratory,University of Maryland School of Medicine RCV000445487 SCV000537118 likely pathogenic Monogenic diabetes 2015-06-12 criteria provided, single submitter clinical testing The c.1344delC variant in codon 448 (exon 10) of the GCK gene results in a frameshift in the protein sequence at codon 449, adding 164 novel amino acids before encountering a stop codon. Loss of function frameshift and nonsense mutations in exon 10 of the GCK gene have been reported previously in patients with Maturity-Onset Diabetes of the Young, Type 2 (MODY2, also called GCK-MODY) (19790256; 14517946; 19150152). In addition, the c.1344delC variant is not observed in the NHLBI Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium databases; ACMG Criteria = PVS1, PM2

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