ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del) (rs1131691505)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493930 SCV000582258 likely pathogenic not provided 2017-05-11 criteria provided, single submitter clinical testing The c.1130_1138delGCGCTGCGC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This deletion results in the in-frame deletion of three amino acids; the deleted residues Arginine 377 and Alanine 378 are conserved across species, and Alanine 379 is conserved in mammals. Missense changes in the deleted residues (R377S/C/L/H, A378T/G/V/D, A379V/E) have been reported in the Human Gene Mutation Database in association with MODY (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Genetic Services Laboratory,University of Chicago RCV000503344 SCV000594951 likely pathogenic not specified 2017-09-19 criteria provided, single submitter clinical testing

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