ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.331A>G (p.Lys111Glu)

gnomAD frequency: 0.00006  dbSNP: rs1239421989
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517366 SCV000615437 uncertain significance not specified 2016-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527532 SCV002978246 uncertain significance Hereditary spastic paraplegia 7 2022-06-28 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SPG7 protein function. ClinVar contains an entry for this variant (Variation ID: 448473). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.05%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 111 of the SPG7 protein (p.Lys111Glu).
Ambry Genetics RCV003278862 SCV003953464 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.331A>G (p.K111E) alteration is located in exon 3 (coding exon 3) of the SPG7 gene. This alteration results from a A to G substitution at nucleotide position 331, causing the lysine (K) at amino acid position 111 to be replaced by a glutamic acid (E). 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.