ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3784G>T (p.Gly1262Cys)

dbSNP: rs2083108639
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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 RCV001300562 SCV001489706 uncertain significance Hereditary spastic paraplegia 11 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 1262 of the SPG11 protein (p.Gly1262Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. 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. 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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