ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6712G>A (p.Ala2238Thr)

gnomAD frequency: 0.00001  dbSNP: rs35504505
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044960 SCV001208786 uncertain significance Hereditary spastic paraplegia 11 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2238 of the SPG11 protein (p.Ala2238Thr). This variant is present in population databases (rs35504505, gnomAD 0.003%). 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: 842530). 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.
Ambry Genetics RCV003160332 SCV003875470 uncertain significance Inborn genetic diseases 2023-02-14 criteria provided, single submitter clinical testing The c.6712G>A (p.A2238T) alteration is located in exon 36 (coding exon 36) of the SPG11 gene. This alteration results from a G to A substitution at nucleotide position 6712, causing the alanine (A) at amino acid position 2238 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.