ClinVar Miner

Submissions for variant NM_001134673.4(NFIA):c.1008_1009dup (p.Ser337fs)

dbSNP: rs1553180342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522581 SCV000621774 pathogenic not provided 2017-10-24 criteria provided, single submitter clinical testing The c.1008_1009dupTT variant in the NFIA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Serine 337, changes this amino acid to a Phenylalanine residue, and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Ser337PhefsX61. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1008_1009dupTT variant is not observed in large population cohorts (Lek et al., 2016). / We interpret c.1008_1009dupTT as a pathogenic variant.

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