ClinVar Miner

Submissions for variant NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) (rs796053359)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189604 SCV000243247 pathogenic not provided 2016-02-23 criteria provided, single submitter clinical testing The R235X pathogenic variant in the STXBP1 gene has been reported previously in association with infantile spasms (Saitsu et al., 2010; Allen et al., 2013; Boutry-Kryza et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R235X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R235X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000415997 SCV000893791 pathogenic Early infantile epileptic encephalopathy 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000819097 SCV000959740 pathogenic Early infantile epileptic encephalopathy 2018-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg235*) in the STXBP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with early infantile epileptic encephalopathy and/or infantile spasms, in several of whom it was found de novo (PMID: 20887364, 25497044, 29186148, 23934111). ClinVar contains an entry for this variant (Variation ID: 207422). Loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000415997 SCV000494037 pathogenic Early infantile epileptic encephalopathy 4 2016-09-09 no assertion criteria provided literature only

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