ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) (rs202060439)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000435385 SCV000511384 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Athena Diagnostics Inc RCV000435385 SCV001143006 uncertain significance not provided 2018-10-05 criteria provided, single submitter clinical testing
Invitae RCV001241551 SCV001414575 uncertain significance Alstrom syndrome 2019-01-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 2504 of the ALMS1 protein (p.Ala2504Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs202060439, ExAC 0.03%). This variant has not been reported in the literature in individuals with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 377156). 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.
GeneDx RCV000435385 SCV001994968 uncertain significance not provided 2019-12-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.