ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr)

gnomAD frequency: 0.00006  dbSNP: rs121917906
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000585038 SCV000242548 likely benign not provided 2021-04-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20729507, 21719429, 27231140, 26990884, 33108073, 28005047)
CeGaT Center for Human Genetics Tuebingen RCV000585038 SCV000693018 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
Invitae RCV001453714 SCV001657413 likely benign Early infantile epileptic encephalopathy with suppression bursts 2023-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415520 SCV002678831 likely benign Inborn genetic diseases 2018-04-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
UniProtKB/Swiss-Prot RCV000059458 SCV000090983 not provided Generalized epilepsy with febrile seizures plus, type 1 no assertion provided not provided

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