ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.5588T>C (p.Met1863Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198008 SCV001368793 uncertain significance Hereditary sensory and autonomic neuropathy type IIA 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PP3,PP4.
Invitae RCV001242219 SCV001415290 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-03-22 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1852 of the SCN9A protein (p.Met1852Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs201561928, ExAC 0.01%). This variant has been observed in an individual affected with painful diabetic neuropathy (PMID: 29176367). This variant has been reported to affect SCN9A protein function (PMID:29176367). 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.

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