ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.1116dup (p.Ser373fs)

dbSNP: rs886041432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000402018 SCV000330075 pathogenic not provided 2015-12-08 criteria provided, single submitter clinical testing The c.1140dupC pathogenic variant in the NFIX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1140dupC variant causes a frameshift starting with codon Serine 381, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 50 of the new reading frame, denoted p.Ser381LeufsX50. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1140dupC variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Protein truncating pathogenic variants downstream of this variant have been reported in the Human Gene Mutation Database in association with NFIX-related disorders (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants. We interpret c.1140dupC as a pathogenic variant.

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