ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) (rs886041701)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624677 SCV000740833 pathogenic Inborn genetic diseases 2015-02-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000361637 SCV000330432 pathogenic not provided 2018-06-28 criteria provided, single submitter clinical testing The R481X variant in the KIAA2022 gene has been reported previously in the heterozygous state as a presumed de novo findings in a female individual with intellectual disability and epilepsy (de Lange et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R481X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R481X as a pathogenic variant.
OMIM RCV000505390 SCV000599601 pathogenic Mental retardation, X-linked 98 2017-09-13 no assertion criteria provided literature only

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