ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly)

gnomAD frequency: 0.00001  dbSNP: rs1185441476
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002024890 SCV002312968 uncertain significance Hereditary spastic paraplegia 11 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1756 of the SPG11 protein (p.Ala1756Gly). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1520098). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SPG11 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261445 SCV002541268 uncertain significance not provided 2022-01-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468384 SCV002763846 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468385 SCV002763847 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002024890 SCV002763848 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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