ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)

gnomAD frequency: 0.00175  dbSNP: rs147132904
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178648 SCV000171861 benign not specified 2013-11-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000178648 SCV000230769 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178648 SCV000249027 uncertain significance not specified 2014-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000560348 SCV000633790 benign Early infantile epileptic encephalopathy with suppression bursts 2024-02-01 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678850 SCV000805041 uncertain significance Bilateral tonic-clonic seizure 2017-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312946 SCV000848696 likely benign Inborn genetic diseases 2017-01-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Genome-Nilou Lab RCV001808385 SCV002056579 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430702 SCV004156427 benign not provided 2022-09-01 criteria provided, single submitter clinical testing SPTAN1: BS1, BS2

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