ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.46-3C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002819275 SCV003197973 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the GCK gene. It does not directly change the encoded amino acid sequence of the GCK protein. It affects a nucleotide within the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with GCK-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Fulgent Genetics, Fulgent Genetics RCV005034434 SCV005668366 uncertain significance Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2024-02-28 criteria provided, single submitter clinical testing

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