ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del)

dbSNP: rs760942576
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
Counsyl RCV000666405 SCV000790691 uncertain significance Alstrom syndrome 2017-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352089 SCV002620196 uncertain significance Cardiovascular phenotype 2021-08-20 criteria provided, single submitter clinical testing The c.381_383delTAG variant (also known as p.S127del) is located in coding exon 2 of the ALMS1 gene. This variant results from an in-frame TAG deletion at nucleotide positions 381 to 383. This results in the in-frame deletion of a serine at codon 127. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000666405 SCV003523528 uncertain significance Alstrom syndrome 2022-08-06 criteria provided, single submitter clinical testing This variant, c.381_383del, results in the deletion of 1 amino acid(s) of the ALMS1 protein (p.Ser127del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760942576, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 551364). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.