ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6857G>A (p.Arg2286Gln)

gnomAD frequency: 0.00003  dbSNP: rs370773328
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791586 SCV000930843 uncertain significance Hereditary spastic paraplegia 11 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2286 of the SPG11 protein (p.Arg2286Gln). This variant is present in population databases (rs370773328, 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: 638909). 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: "Tolerated"; 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849094 SCV002105766 uncertain significance Hereditary spastic paraplegia 2021-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360907 SCV002662849 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The p.R2286Q variant (also known as c.6857G>A), located in coding exon 38 of the SPG11 gene, results from a G to A substitution at nucleotide position 6857. The arginine at codon 2286 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002468048 SCV002763661 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468049 SCV002763663 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000791586 SCV002763664 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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