ClinVar Miner

Submissions for variant NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)

gnomAD frequency: 0.00001  dbSNP: rs1050317633
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
Invitae RCV001366907 SCV001563227 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SPART-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 637 of the SPART protein (p.Glu637Lys). ClinVar contains an entry for this variant (Variation ID: 644380). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849102 SCV002105797 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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.