ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.568T>C (p.Cys190Arg)

gnomAD frequency: 0.00001  dbSNP: rs767712066
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699654 SCV000828374 uncertain significance Hereditary spastic paraplegia 11 2018-01-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 190 of the SPG11 protein (p.Cys190Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. This variant is present in population databases (rs767712066, ExAC 0.009%). This variant has not been reported in the literature in individuals with SPG11-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV004588137 SCV005079353 uncertain significance not provided 2023-09-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26556829)

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