ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.483+1G>A

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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 RCV002338076 SCV002639197 pathogenic Maturity onset diabetes mellitus in young 2016-09-20 criteria provided, single submitter clinical testing The c.483+1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide after coding exon 4 of the GCK gene. This variant was detected in one individual with maturity-onset diabetes of the young (MODY) as well as four individuals from one family from a population that was described as hyperglycemic (Osbak KK et al. Hum. Mutat., 2009 Nov;30:1512-26; Steele AM et al. JAMA, 2014 Jan;311:279-86). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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