ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)

gnomAD frequency: 0.00001  dbSNP: rs746702722
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465433 SCV000541324 uncertain significance Alstrom syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 3441 of the ALMS1 protein (p.Arg3441Gly). This variant is present in population databases (rs746702722, gnomAD 0.06%), including at least one homozygous and/or hemizygous individual. 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: 403921). 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.
Counsyl RCV000465433 SCV000789273 uncertain significance Alstrom syndrome 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001539961 SCV001757789 likely benign not provided 2018-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393076 SCV002702608 benign Cardiovascular phenotype 2024-07-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Natera, Inc. RCV000465433 SCV001465809 benign Alstrom syndrome 2020-11-10 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.