ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.830G>T (p.Gly277Val)

dbSNP: rs1678761963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001223403 SCV001395552 uncertain significance Hereditary spastic paraplegia 4 2021-05-05 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SPAST protein function. This variant has not been reported in the literature in individuals with SPAST-related conditions. ClinVar contains an entry for this variant (Variation ID: 951475). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 277 of the SPAST protein (p.Gly277Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine.
Paris Brain Institute, Inserm - ICM RCV001391483 SCV001451330 uncertain significance Spastic paraplegia criteria provided, single submitter clinical testing

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