ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) (rs786205208)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622439 SCV000743061 pathogenic Inborn genetic diseases 2017-10-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000518913 SCV000617428 pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing The R628X variant in the KIAA2022 gene has been reported previously as a de novo variant in a female with intellectual disability (Athanasakis et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R628X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R628X as a pathogenic variant.
Invitae RCV000170439 SCV000961973 pathogenic Mental retardation, X-linked 98 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg628*) 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 female individuals affected with mild or moderate intellectual disability (PMID: 24307393, 27358180). ClinVar contains an entry for this variant (Variation ID: 190220). Loss-of-function variants in KIAA2022 are known to be pathogenic (PMID: 23615299). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000170439 SCV000222877 likely pathogenic Mental retardation, X-linked 98 2015-03-10 no assertion criteria provided clinical testing

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