ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=)

gnomAD frequency: 0.00257  dbSNP: rs138609094
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000179370 SCV000171818 benign not specified 2014-01-24 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) RCV000179370 SCV000231608 likely benign not specified 2014-05-07 criteria provided, single submitter clinical testing
Invitae RCV000472180 SCV000562970 benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316415 SCV000850419 likely benign Inborn genetic diseases 2016-03-21 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 RCV001808355 SCV002056626 benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001808355 SCV002805413 likely benign Developmental and epileptic encephalopathy, 5 2021-07-07 criteria provided, single submitter clinical testing

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