ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs)

dbSNP: rs2147439499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001733838 SCV001984853 likely pathogenic X-linked intellectual disability, Cantagrel type 2020-06-01 criteria provided, single submitter clinical testing This frameshifting variant in exon 3 of 4 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the gnomAD population database and thus is presumed to be rare. Based on the available evidence, the c.3395_3398del (p.Asn1132IlefsTer55) variant is classified as Likely Pathogenic.

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