ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2561C>T (p.Ala854Val)

gnomAD frequency: 0.00002  dbSNP: rs758923470
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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 RCV000642533 SCV000764218 uncertain significance Hereditary spastic paraplegia 11 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 854 of the SPG11 protein (p.Ala854Val). This variant is present in population databases (rs758923470, gnomAD 0.005%). This missense change has been observed in individual(s) with ataxia (PMID: 31692161). ClinVar contains an entry for this variant (Variation ID: 534838). 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.
Athena Diagnostics RCV001287995 SCV001474770 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools predict that this variant is not damaging.
Genome-Nilou Lab RCV002467950 SCV002764043 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467951 SCV002764044 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000642533 SCV002764045 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001287995 SCV005409923 uncertain significance not provided 2024-08-27 criteria provided, single submitter clinical testing BP4, PM2

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