ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2047C>G (p.Pro683Ala)

gnomAD frequency: 0.00005  dbSNP: rs200805909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647768 SCV000769571 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2017-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 672 of the SCN9A protein (p.Pro672Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs200805909, ExAC 0.02%). This variant has not been reported in the literature in individuals with SCN9A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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