ClinVar Miner

Submissions for variant NM_000162.3(GCK):c.1003delG (p.Val335Cysfs) (rs193922254)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255354 SCV000322347 pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing The c.1003delG pathogenic variant in the GCK gene has been reported previously in association with MODY (Pihoker et al., 2013). The deletion causes a frameshift starting with codon Valine 335, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Val335CysfsX18. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). In summary, we consider this variant to be pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000029829 SCV000052484 likely pathogenic Maturity-onset diabetes of the young, type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.

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