ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) (rs780809852)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189005 SCV000242636 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing p.Ala1834Val (GCG>GTG): c.5501 C>T in exon 26 of the SCN1A gene (NM_001165963.1) The Ala1834Val missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution of one uncharged, non-polar amino acid for another at a position that is conserved in placental mammals but is not conserved in more distantly related species. However, it alters a position between the sixth transmembrane domain and the IQ domain and other missense mutations associated with Dravet syndrome (Phe1831Ser, Ala1832Pro, Leu1835Phe) have been reported in this region of the protein. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. Therefore, based on the currently available information, it is unclear whether Ala1834Val is a disease-causing mutation or a rare benign variant.The variant is found in INFANT-EPI panel(s).
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714534 SCV000845231 uncertain significance Generalized epilepsy with febrile seizures plus, type 2 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714535 SCV000845232 uncertain significance Severe myoclonic epilepsy in infancy 2018-08-07 criteria provided, single submitter clinical testing

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