ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)

gnomAD frequency: 0.00003  dbSNP: rs377418428
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
Counsyl RCV000668364 SCV000792949 uncertain significance Alstrom syndrome 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000668364 SCV001507195 uncertain significance Alstrom syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 3663 of the ALMS1 protein (p.Glu3663Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs377418428, gnomAD 0.002%). 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: 553003). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx RCV003128687 SCV003805479 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003303095 SCV003999430 uncertain significance Cardiovascular phenotype 2023-03-28 criteria provided, single submitter clinical testing The p.E3663G variant (also known as c.10988A>G), located in coding exon 16 of the ALMS1 gene, results from an A to G substitution at nucleotide position 10988. The glutamic acid at codon 3663 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000668364 SCV002078993 uncertain significance Alstrom syndrome 2019-10-28 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.