ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) (rs878854425)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000229372 SCV000282083 pathogenic not provided 2016-01-21 criteria provided, single submitter clinical testing The R313X variant in the KIAA2022 gene has been observed in internal GeneDx whole exome sequencing data in association with seizures, intellectual disability, motor delay, and gastroesophageal reflux. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R313X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R313X as a pathogenic variant.
Invitae RCV000813595 SCV000953961 pathogenic Mental retardation, X-linked 98 2018-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg313*) in the KIAA2022 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with intellectual disability and seizures (PMID: 27568816). ClinVar contains an entry for this variant (Variation ID: 242327). Loss-of-function variants in KIAA2022 are known to be pathogenic (PMID: 23615299). For these reasons, this variant has been classified as Pathogenic.

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