ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.962C>G (p.Ser321Cys)

dbSNP: rs2141108155
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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 RCV001978634 SCV002279426 uncertain significance Hereditary spastic paraplegia 11 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 321 of the SPG11 protein (p.Ser321Cys). This variant is not present in population databases (gnomAD no frequency). 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) has been performed at Invitae 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. ClinVar contains an entry for this variant (Variation ID: 1490651). This variant has not been reported in the literature in individuals affected with SPG11-related conditions.

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