ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile)

gnomAD frequency: 0.00003  dbSNP: rs373004988
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
Eurofins Ntd Llc (ga) RCV000593627 SCV000703451 uncertain significance not provided 2016-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854021 SCV002261067 uncertain significance Alstrom syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 2339 of the ALMS1 protein (p.Thr2339Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs373004988, gnomAD 0.02%). 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: 498443). 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 RCV000593627 SCV002584135 uncertain significance not provided 2022-10-13 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
Ambry Genetics RCV002368005 SCV002666899 uncertain significance Cardiovascular phenotype 2022-04-07 criteria provided, single submitter clinical testing The p.T2339I variant (also known as c.7016C>T), located in coding exon 8 of the ALMS1 gene, results from a C to T substitution at nucleotide position 7016. The threonine at codon 2339 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000593627 SCV005187753 uncertain significance not provided criteria provided, single submitter not provided

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.