ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu)

gnomAD frequency: 0.00003  dbSNP: rs201025991
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669677 SCV000794453 uncertain significance Alstrom syndrome 2017-09-26 criteria provided, single submitter clinical testing
GeneDx RCV001556302 SCV001777860 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Invitae RCV000669677 SCV002130369 uncertain significance Alstrom syndrome 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 2693 of the ALMS1 protein (p.Lys2693Glu). This variant is present in population databases (rs201025991, gnomAD 0.008%). 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: 554109). 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.
Ambry Genetics RCV002422454 SCV002677066 uncertain significance Cardiovascular phenotype 2023-06-05 criteria provided, single submitter clinical testing The p.K2693E variant (also known as c.8077A>G), located in coding exon 10 of the ALMS1 gene, results from an A to G substitution at nucleotide position 8077. The lysine at codon 2693 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV000669677 SCV002815226 uncertain significance Alstrom syndrome 2021-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000669677 SCV002082892 uncertain significance Alstrom syndrome 2021-07-07 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.