ClinVar Miner

Submissions for variant NM_004863.4(SPTLC2):c.842A>G (p.Lys281Arg)

gnomAD frequency: 0.00002  dbSNP: rs780031244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236544 SCV001409272 uncertain significance Neuropathy, hereditary sensory and autonomic, type 1C 2019-09-12 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with SPTLC2-related conditions. This variant is present in population databases (rs780031244, ExAC 0.006%). This sequence change replaces lysine with arginine at codon 281 of the SPTLC2 protein (p.Lys281Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine.

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