ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.83G>C (p.Cys28Ser)

dbSNP: rs1676390484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238954 SCV001411791 uncertain significance Hereditary spastic paraplegia 4 2019-10-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 28 of the SPAST protein (p.Cys28Ser). The cysteine residue is weakly conserved and there is a moderate physicochemical difference between cysteine and serine. 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. This variant has not been reported in the literature in individuals with SPAST-related conditions. This variant is not present in population databases (ExAC no frequency).

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