ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)

dbSNP: rs1555231012
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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 RCV000622903 SCV000851784 likely pathogenic Inborn genetic diseases 2017-06-28 criteria provided, single submitter clinical testing The p.M1760T variant (also known as c.5279T>C), located in coding exon 26 of the SCN8A gene, results from a T to C substitution at nucleotide position 5279. The methionine at codon 1760 is replaced by threonine, an amino acid with similar properties. This variant has been determined to be the result of a de novo mutation or germline mosaicism in one family with an isolated case of SCN8A-related neurodevelopmental disorder (Ambry internal data). This variant is located in an functionally critical position (Wu J et al. Science, 2015 Dec;350:aad2395; Veeramah KR et al. Am. J. Hum. Genet., 2012 Mar;90:502-10; Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Mendelics RCV000988852 SCV001138741 likely pathogenic Developmental and epileptic encephalopathy, 13 2019-05-28 criteria provided, single submitter clinical testing

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