ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=)

gnomAD frequency: 0.00007  dbSNP: rs200805356
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503731 SCV000595352 likely benign not specified 2015-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000537372 SCV000653830 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224302 SCV003920273 likely benign X-linked intellectual disability, Cantagrel type 2022-10-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.01% (6/53144) including 2 hemizygotes (https://gnomad.broadinstitute.org/variant/X-74740219-C-T?dataset=gnomad_r3). This variant is present in ClinVar, with multiple labs classifying this variant as Likely Benign (Variation ID:435594). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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