ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)

gnomAD frequency: 0.00127  dbSNP: rs77358650
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001357611 SCV000171822 benign not provided 2018-11-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26539891, 31180159)
Genetic Services Laboratory, University of Chicago RCV000128230 SCV000195054 benign not specified 2016-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000128230 SCV000331607 benign not specified 2015-11-19 criteria provided, single submitter clinical testing
Invitae RCV000458268 SCV000562991 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312608 SCV000847210 benign Inborn genetic diseases 2017-02-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Mendelics RCV000988260 SCV001137914 benign Developmental and epileptic encephalopathy, 5 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988260 SCV002056529 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001357611 SCV002498054 benign not provided 2023-12-01 criteria provided, single submitter clinical testing SPTAN1: PP2, BP4, BS1, BS2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454129 SCV000537980 likely pathogenic Abnormal brain morphology flagged submission research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357611 SCV001553131 uncertain significance not provided no assertion criteria provided clinical testing

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