ClinVar Miner

Submissions for variant NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile)

gnomAD frequency: 0.00021  dbSNP: rs150259704
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000422875 SCV000511036 likely benign not provided 2017-01-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000422875 SCV000565605 benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Invitae RCV001089280 SCV000633889 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311442 SCV000847269 benign Inborn genetic diseases 2018-12-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000422875 SCV003917700 benign not provided 2023-03-01 criteria provided, single submitter clinical testing STXBP1: PP2, BS1, BS4
PreventionGenetics, part of Exact Sciences RCV004551418 SCV004758024 likely benign STXBP1-related disorder 2021-02-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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