ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.1213G>A (p.Ala405Thr)

dbSNP: rs2079559039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220287 SCV001392267 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2022-08-31 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 948930). This variant has not been reported in the literature in individuals affected with SPTLC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 405 of the SPTLC2 protein (p.Ala405Thr).

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