ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.209T>C (p.Met70Thr)

gnomAD frequency: 0.00001  dbSNP: rs1329565373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693018 SCV000820871 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2018-04-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SCN9A-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 70 of the SCN9A protein (p.Met70Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine.

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