ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)

dbSNP: rs886041971
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000314302 SCV000330786 pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing The R348X pathogenic variant in the KIAA2022 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R348X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R348X as a pathogenic variant.
Invitae RCV000314302 SCV001207274 pathogenic not provided 2022-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 280835). This variant has not been reported in the literature in individuals affected with NEXMIF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg348*) in the NEXMIF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEXMIF are known to be pathogenic (PMID: 23615299).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000767534 SCV000898152 pathogenic X-linked intellectual disability, Cantagrel type 2018-06-28 no assertion criteria provided clinical testing

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