ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.256_257TC[4] (p.Ile88fs) (rs1554776831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486113 SCV000567716 pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing The c.260_261dupTC duplication in the STXBP1 gene causes a frameshift starting with codon Isoleucine 88, changes this amino acid to a Serine residue and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Ile88SerfsX33. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, we interpret it to be pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001004751 SCV001164230 pathogenic Early infantile epileptic encephalopathy 4 2018-09-03 criteria provided, single submitter clinical testing

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