ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6158T>G (p.Val2053Gly)

dbSNP: rs2140928866
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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 RCV002014342 SCV002301966 uncertain significance Hereditary spastic paraplegia 11 2022-10-05 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. This variant disrupts the p.Val2053 amino acid residue in SPG11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17717710, 19196735, 20110243, 24833714, 34153142). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 1511089). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2053 of the SPG11 protein (p.Val2053Gly).

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