ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.456dup (p.Gln153fs)

dbSNP: rs1580280976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008931 SCV001168738 pathogenic not provided 2019-09-23 criteria provided, single submitter clinical testing The c.456dupA variant in the MCCC2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Glutamine 153, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Gln153ThrfsX20. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.456dupA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.456dupA as a pathogenic variant.

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