ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.1288G>C (p.Asp430His)

dbSNP: rs2079558586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039330 SCV001202857 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2019-12-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SPTLC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with histidine at codon 430 of the SPTLC2 protein (p.Asp430His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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