ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)

dbSNP: rs2104104189
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001384455 SCV001583954 pathogenic Alstrom syndrome 2021-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp3521Asnfs*25) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alstrom syndrome (PMID: 25846608). ClinVar contains an entry for this variant (Variation ID: 1071886). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002404899 SCV002713509 pathogenic Cardiovascular phenotype 2022-06-08 criteria provided, single submitter clinical testing The c.10561_10564delGACA variant, located in coding exon 16 of the ALMS1 gene, results from a deletion of 4 nucleotides at nucleotide positions 10561 to 10564, causing a translational frameshift with a predicted alternate stop codon (p.D3521Nfs*25). This variant was reported in two individuals from an Alstrom syndrome cohort (Marshall JD et al. Hum Mutat, 2015 Jul;36:660-8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.