ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.238G>A (p.Gly80Ser) (rs1554335761)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519805 SCV000617560 likely pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing The G80S variant has been published previously in association with MODY (Guazzini et al., 1998). The variant is not observed in large population cohorts (Lek et al., 2016). The variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same residue (G80A/D) and in nearby residues (S76Y/C, L77R/P, D78H/G/E, G81C/S/D, T82A/I) 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.

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