ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.764T>A (p.Leu255Gln)

dbSNP: rs2058311875
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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 RCV002016493 SCV002298076 uncertain significance Hereditary spastic paraplegia 7 2021-10-05 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 expected to disrupt SPG7 protein function. 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 leucine with glutamine at codon 255 of the SPG7 protein (p.Leu255Gln). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and glutamine.

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