ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4541G>A (p.Arg1514Gln) (rs1559114408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719471 SCV000850338 uncertain significance History of neurodevelopmental disorder 2017-02-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000795943 SCV000935424 uncertain significance Early infantile epileptic encephalopathy 2019-01-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1525 of the SCN1A protein (p.Arg1525Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with epilepsy (PMID: 28202706, 28951233), however in one family the variant occurred in cis with a second variant in SCN1A (PMID: 28951233). ClinVar contains an entry for this variant (Variation ID: 589466). This variant has been reported to affect SCN1A protein function (PMID: 28951233). 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.

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