ClinVar Miner

Submissions for variant NM_001365902.3(NFIX):c.905del (p.Pro302fs)

dbSNP: rs886041828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000401893 SCV000330596 pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing The c.929delC pathogenic variant in the NFIX gene causes a frameshift starting with codon Proline 310, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 22 of the new reading frame, denoted p.P310QfsX22. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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