ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.7529G>A (p.Arg2510Gln) (rs551433143)

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
GeneDx RCV000497320 SCV000590616 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing The R2510Q variant has not been published as pathogenic or been reported as benign to our knowledge. The R2510Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The R2510Q variant is observed in 6/13316 (0.045%) alleles from individuals of South Asian ancestry in the ExAC dataset; no homozygous individuals have been reported (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Invitae RCV001245235 SCV001418508 uncertain significance Alstrom syndrome 2019-02-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2510 of the ALMS1 protein (p.Arg2510Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs551433143, ExAC 0.05%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 432847). 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: "Not Available"; 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.

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.