ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1537A>T (p.Thr513Ser)

dbSNP: rs1553319281
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644888 SCV000766606 uncertain significance Hereditary spastic paraplegia 4 2017-11-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 513 of the SPAST protein (p.Thr513Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SPAST-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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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