ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1256G>T (p.Gly419Val)

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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 RCV003043857 SCV003341245 uncertain significance Hereditary spastic paraplegia 4 2022-04-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SPAST-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 419 of the SPAST protein (p.Gly419Val). This variant is not present in population databases (gnomAD no frequency). 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 expected to disrupt SPAST protein function. 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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