ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)

dbSNP: rs778387199
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391528 SCV001451062 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter clinical testing
Invitae RCV001391528 SCV002276815 uncertain significance Hereditary spastic paraplegia 7 2021-08-02 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 expected to disrupt SPG7 protein function. ClinVar contains an entry for this variant (Variation ID: 989130). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with methionine at codon 588 of the SPG7 protein (p.Thr588Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine.

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