ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.3584A>G (p.Glu1195Gly)

gnomAD frequency: 0.00004  dbSNP: rs775875753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034802 SCV001198101 uncertain significance Hereditary spastic paraplegia 11 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1195 of the SPG11 protein (p.Glu1195Gly). This variant is present in population databases (rs775875753, gnomAD 0.006%). 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: 834168). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly 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.
Ambry Genetics RCV002460123 SCV002618150 uncertain significance Inborn genetic diseases 2021-11-11 criteria provided, single submitter clinical testing The p.E1195G variant (also known as c.3584A>G), located in coding exon 21 of the SPG11 gene, results from an A to G substitution at nucleotide position 3584. The glutamic acid at codon 1195 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004792633 SCV005409919 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing PP3, PM2

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