ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) (rs144691638)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189009 SCV000242640 uncertain significance not specified 2017-08-14 criteria provided, single submitter clinical testing p.Met1856Ile (M1856I) ATG>ATA: c.5568 G>A in exon 26 of the SCN1A gene (NM_001165963.1) The M1856I missense change in the SCN1A gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. A different amino acid substitution at this same position (M1856T) has been reported in an external mutation database in association with GEFS+. The M1856I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species; however, Isoleucine is observed at this position in a single vertebrate species. In silico analysis is inconsistent with regard to the effect this variant may have on the protein structure/function. The variant is found in EPILEPSY panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726913 SCV000704133 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV001079061 SCV000758013 likely benign Early infantile epileptic encephalopathy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716662 SCV000847504 likely benign History of neurodevelopmental disorder 2018-09-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification

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