ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2458del (p.Asp820fs)

dbSNP: rs1602211753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009283 SCV001169105 pathogenic not provided 2019-02-25 criteria provided, single submitter clinical testing The c.2458delG variant in the KIAA2022 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2458delG variant causes a frameshift starting with codon Aspartic acid 820, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 89 of the new reading frame, denoted p.Asp820MetfsX89. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2458delG variant is not observed in large population cohorts (Lek et al., 2016). Additionally, this variant has occurred de novo in this individual whose reported clinical presentation is consistent with a KIAA2022-related disorder. Therefore, c.2458delG is considered a pathogenic variant.

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