ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs)

dbSNP: rs1554778657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249692 SCV001423688 pathogenic Developmental and epileptic encephalopathy, 4 2018-05-16 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PS2, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2].
Labcorp Genetics (formerly Invitae), Labcorp RCV003770290 SCV004642455 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg464Glnfs*31) in the STXBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STXBP1 are known to be pathogenic (PMID: 20887364, 26384463). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of STXBP1-related conditions (PMID: 32371413, 33176815). ClinVar contains an entry for this variant (Variation ID: 973268). For these reasons, this variant has been classified as Pathogenic.
GenomeConnect - Simons Searchlight RCV001265422 SCV001443548 pathogenic Infantile epilepsy syndrome 2019-02-04 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-02-04 and interpreted as Pathogenic. Variant was initially reported on 2018-05-16 by GTR ID of laboratory name 196472. The reporting laboratory might also submit to ClinVar.

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