ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.535A>G (p.Asn179Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347008 SCV002641538 uncertain significance Maturity onset diabetes mellitus in young 2017-04-07 criteria provided, single submitter clinical testing The p.N179D variant (also known as c.535A>G), located in coding exon 5 of the GCK gene, results from an A to G substitution at nucleotide position 535. The asparagine at codon 179 is replaced by aspartic acid, an amino acid with highly similar properties. This nucleotide position is highly conserved in available vertebrate species. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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