ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.13C>T (p.Pro5Ser)

dbSNP: rs1473189491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243936 SCV001417127 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2019-10-04 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 5 of the SPTLC2 protein (p.Pro5Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with SPTLC2-related conditions. 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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