ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) (rs1064793134)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479890 SCV000565032 likely pathogenic not provided 2015-12-02 criteria provided, single submitter clinical testing The D363N missense variant in the GCK gene has been reported previously in association with MODY; however, family studies and functional studies were not reported for this variant (Osbak et al., 2009). The D363N variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved; however, in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in the same (D363V) and in nearby residues (P359L, D365N, V367M) 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. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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