ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.1437del (p.Leu480fs)

dbSNP: rs2147440953
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001381933 SCV001580509 pathogenic not provided 2020-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu480Cysfs*20) 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 not been reported in the literature in individuals with KIAA2022-related conditions. 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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