ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.450+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1371008925
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
Counsyl RCV000672994 SCV000798156 uncertain significance Alstrom syndrome 2018-02-27 criteria provided, single submitter clinical testing
Invitae RCV000672994 SCV002943323 uncertain significance Alstrom syndrome 2022-04-15 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the ALMS1 gene. It does not directly change the encoded amino acid sequence of the ALMS1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 556924). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.