ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6928A>C (p.Asn2310His)

dbSNP: rs2140913625
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 RCV001976509 SCV002263535 uncertain significance Hereditary spastic paraplegia 11 2022-06-05 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1475785). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 2310 of the SPG11 protein (p.Asn2310His). 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 RCV004671582 SCV005172150 uncertain significance Inborn genetic diseases 2024-03-18 criteria provided, single submitter clinical testing The c.6928A>C (p.N2310H) alteration is located in exon 38 (coding exon 38) of the SPG11 gene. This alteration results from a A to C substitution at nucleotide position 6928, causing the asparagine (N) at amino acid position 2310 to be replaced by a histidine (H). 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.