ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val)

dbSNP: rs1057518874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415188 SCV000492805 likely pathogenic Gait disturbance; Spastic paraparesis; Difficulty walking; Generalized hyperreflexia 2015-05-05 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197643 SCV001368422 likely pathogenic Hereditary spastic paraplegia 11 2018-09-25 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001197643 SCV002593887 uncertain significance Hereditary spastic paraplegia 11 2024-06-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1262 of the SPG11 protein (p.Gly1262Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 374071). 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 SPG11 protein function with a positive predictive value of 80%. 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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