ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu)

dbSNP: rs77517267
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
GeneDx RCV000489305 SCV000576824 uncertain significance not provided 2023-07-18 criteria provided, single submitter clinical testing Reported as a heterozygous variant in a pediatric patient with HCM who also harbored variants in autosomal dominant genes (Burstein et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26582918, 32746448)
Invitae RCV001084303 SCV000756127 likely benign Alstrom syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431429 SCV002740564 likely benign Cardiovascular phenotype 2021-05-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.