ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) (rs375953445)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503636 SCV000596945 likely benign not specified 2015-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000828537 SCV000970230 likely benign not provided 2018-04-09 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.
Invitae RCV001037743 SCV001201171 uncertain significance Early infantile epileptic encephalopathy 2019-12-18 criteria provided, single submitter clinical testing This sequence change affects codon 1129 of the SCN1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN1A protein. This variant is present in population databases (rs375953445, ExAC 0.02%). This variant has not been reported in the literature in individuals with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 436649). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000828537 SCV001248474 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing

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