ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)

dbSNP: rs549857076
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000634797 SCV000756140 pathogenic Alstrom syndrome 2023-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2670*) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 529386). This premature translational stop signal has been observed in individuals with Alstrom syndrome (PMID: 15689433, 18038714, 22447358). This variant is not present in population databases (gnomAD no frequency).
Eurofins Ntd Llc (ga) RCV000734688 SCV000862847 pathogenic not provided 2018-08-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000634797 SCV003928417 pathogenic Alstrom syndrome 2023-04-17 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.8002C>T/p.Arg2668X(also known as c.8008C>T/p.Arg2670X) results in a premature termination codon, predicted to cause an absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 249506 control chromosomes. c.8002C>T has been reported in the literature in individuals affected with Alstrom Syndrome. These data indicate that the variant may be associated with disease. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc. RCV000634797 SCV002082890 pathogenic Alstrom syndrome 2020-08-05 no assertion criteria provided clinical testing

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.