ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) (rs539112266)

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
Invitae RCV000794034 SCV000933417 uncertain significance Alstrom syndrome 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 2431 of the ALMS1 protein (p.Ser2431Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs539112266, ExAC 0.009%). This variant has not been reported in the literature in individuals with ALMS1-related disease. 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195366 SCV001365713 uncertain significance not specified 2020-03-11 criteria provided, single submitter clinical testing The p.Ser2431Arg variant in ALMS1 has not been previously reported in individuals with hearing loss but has been identified in 0.022% (28/128584) of European chromosomes by gnomAD ( This variant has been reported in in ClinVar (Variation ID: 640904). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Baylor Genetics RCV000794034 SCV001528930 uncertain significance Alstrom syndrome 2018-07-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.