ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)

dbSNP: rs1556016292
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554398 SCV000653823 pathogenic not provided 2019-06-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KIAA2022 are known to be pathogenic (PMID: 23615299). This variant has not been reported in the literature in individuals with KIAA2022-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys1199Glnfs*5) in the KIAA2022 gene. It is expected to result in an absent or disrupted protein product.
GenomeConnect - Invitae Patient Insights Network RCV003330793 SCV004037520 not provided X-linked intellectual disability, Cantagrel type no assertion provided phenotyping only Variant classified as Pathogenic and reported on 07-01-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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