ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.3507C>A (p.Asn1169Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338208 SCV004047223 uncertain significance X-linked intellectual disability, Cantagrel type criteria provided, single submitter clinical testing The missense variant p.N1169K in NEXMIF (NM_001008537.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.N1169K variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between asparagine and lysine. The variant is predicted to be damaging by both SIFT and PolyPhen2. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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