ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2622_2631del (p.Ile874fs) (rs1064793850)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480984 SCV000567182 pathogenic not provided 2017-05-25 criteria provided, single submitter clinical testing The c.2622_2631del10 deletion in the SCN2A gene causes a frameshift starting with codon Isoleucine 874,changes the amino acid to a Methionine residue and creates a premature Stop codon at position 5 of the newreading frame, denoted p.Ile874MetfsX5. This deletion is predicted to cause loss of normal protein functioneither through protein truncation or mRNA decay. Although this variant has not been reported previously toour knowledge, we consider it to be pathogenic.

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