ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.171G>A (p.Met57Ile) (rs1057520109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479407 SCV000565029 likely pathogenic not provided 2014-02-03 criteria provided, single submitter clinical testing The M57I missense substitution in the GCK gene represents a conservative amino acid substitution in that a neutral Methionine residue is replaced with a neutral Isoleucine residue at a position that is highly conserved across species. An external variant database reports M57I was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In silico algorithms predict that M57I has a damaging effect on the protein. Additionally, according to the Human Gene Mutation Database, other pathogenic variants at this codon (M57R, M57T) have been reported in the literature. Therefore, based on the information currently available, M57I is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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