ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)

dbSNP: rs886039435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254966 SCV000321954 pathogenic not provided 2019-03-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26865513, 29655203)
Labcorp Genetics (formerly Invitae), Labcorp RCV001240474 SCV001413420 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to be de novo in an individual affected with STXBP1-related encephalopathy (PMID: 26865513, Invitae). ClinVar contains an entry for this variant (Variation ID: 265263). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 426 of the STXBP1 protein (p.Leu426Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
GenomeConnect, ClinGen RCV000254966 SCV000607312 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect - Simons Searchlight RCV001265291 SCV001443408 likely pathogenic Infantile epilepsy syndrome 2016-12-20 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-12-20 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-03-06 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar.

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