ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu)

gnomAD frequency: 0.00014  dbSNP: rs141738108
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496278 SCV001700975 likely benign not provided 2024-10-12 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227977 SCV003924215 uncertain significance X-linked intellectual disability, Cantagrel type 2021-03-30 criteria provided, single submitter clinical testing KIAA2022 NM_001008537 exon 3 p.Ile105Leu (c.313A>C): This variant has not been reported in the literature but is present in 6/18099 African individuals including 2 hemizygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141738108). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV004037363 SCV003947831 likely benign not specified 2023-04-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GenomeConnect - Brain Gene Registry RCV003227977 SCV003931229 not provided X-linked intellectual disability, Cantagrel type no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 12-06-2016 by Baylor Medical Genetics Laboratories. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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