ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn)

gnomAD frequency: 0.00001  dbSNP: rs183773481
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001888333 SCV002142490 uncertain significance Alstrom syndrome 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2065 of the ALMS1 protein (p.Asp2065Asn). This variant is present in population databases (rs183773481, gnomAD no frequency). 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: 1377110). 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 RCV002359339 SCV002656876 uncertain significance Cardiovascular phenotype 2019-08-06 criteria provided, single submitter clinical testing The p.D2065N variant (also known as c.6193G>A), located in coding exon 8 of the ALMS1 gene, results from a G to A substitution at nucleotide position 6193. The aspartic acid at codon 2065 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly 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.
GeneDx RCV003223731 SCV003919647 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing Not observed at 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

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.