ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.3640G>A (p.Ala1214Thr) (rs769243993)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725891 SCV000242904 uncertain significance not provided 2017-10-23 criteria provided, single submitter clinical testing The A1214T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A1214T variant is observed in 2/17244 (0.01%) alleles from individuals of East Asian background (Lek et al., 2016). The A1214T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a conserved position predicted to be within the transmembrane segment S1 of the third homologous domain, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with SCN8A-related disorders (Stenson et al., 2014). Additionally, targeted parental testing results indicate this variant is maternally inherited in this individual. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725891 SCV000340285 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing

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