ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4371dup (p.Ile1458fs) (rs1131691361)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493940 SCV000581960 pathogenic not provided 2017-05-09 criteria provided, single submitter clinical testing The c.4371dupT pathogenic variant in the SCN2A gene causes a frameshift starting with codon Isoleucine 1458, changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Ile1458TyrfsX18. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4371dupT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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