ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1155del (p.Leu386fs) (rs1400535021)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598690 SCV000709947 likely pathogenic not provided 2017-12-18 criteria provided, single submitter clinical testing The c.1155delG variant in the GCK gene has been reported in at least one individual with diabetes diagnosed before 20 years of age (Pihoker et al., 2013). The c.1155delG variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This deletion causes a frameshift starting with codon Leucine 386, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Leu386TrpfsX16. This variant is predicted to cause loss of normal protein function through protein truncation. Based on currently available evidence, c.1155delG is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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