ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1156del (p.Leu386fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002355448 SCV002623585 pathogenic Maturity onset diabetes mellitus in young 2015-05-07 criteria provided, single submitter clinical testing The c.1156delC (p.L386Wfs*16) pathogenic mutation, located in coding exon 9 of the GCK gene, results from a deletion of one nucleotide at position 1156, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Labcorp Genetics (formerly Invitae), Labcorp RCV003094397 SCV003315010 pathogenic not provided 2023-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu386Trpfs*16) in the GCK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCK are known to be pathogenic (PMID: 7553875, 9867845, 14578306, 24323243, 25015100). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant GCK-related conditions (PMID: 32533152). ClinVar contains an entry for this variant (Variation ID: 1735443). For these reasons, this variant has been classified as Pathogenic.

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