ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1014dup (p.Pro339fs)

dbSNP: rs1556016723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598577 SCV000710379 pathogenic not provided 2018-01-05 criteria provided, single submitter clinical testing The c.1014dupT variant in the KIAA2022 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1014dupT variant causes a frameshift starting with codon Proline 339, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Pro339SerfsX13. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1014dupT variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1014dupT as a pathogenic variant.

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