ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met)

gnomAD frequency: 0.00001  dbSNP: rs760321819
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
Invitae RCV000634781 SCV000756124 uncertain significance Alstrom syndrome 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 3546 of the ALMS1 protein (p.Ile3546Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 529373). 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 RCV002406358 SCV002716275 uncertain significance Cardiovascular phenotype 2021-07-20 criteria provided, single submitter clinical testing The p.I3546M variant (also known as c.10638A>G), located in coding exon 16 of the ALMS1 gene, results from an A to G substitution at nucleotide position 10638. The isoleucine at codon 3546 is replaced by methionine, 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.
Natera, Inc. RCV000634781 SCV002078982 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.