ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)

gnomAD frequency: 0.00005  dbSNP: rs373213201
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669193 SCV000793921 uncertain significance Alstrom syndrome 2017-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331308 SCV002637489 uncertain significance Cardiovascular phenotype 2020-03-17 criteria provided, single submitter clinical testing The p.L1496V variant (also known as c.4486C>G), located in coding exon 8 of the ALMS1 gene, results from a C to G substitution at nucleotide position 4486. The leucine at codon 1496 is replaced by valine, an amino acid with highly 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 RCV000669193 SCV002790283 uncertain significance Alstrom syndrome 2021-08-20 criteria provided, single submitter clinical testing
Invitae RCV000669193 SCV003471209 uncertain significance Alstrom syndrome 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1496 of the ALMS1 protein (p.Leu1496Val). This variant is present in population databases (rs373213201, gnomAD 0.007%). 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: 553687). 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.

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.