ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[10] (p.Glu26_Glu29del) (rs55889738)

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 RCV000232022 SCV000290100 benign Alstrom syndrome 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000608771 SCV000714831 likely benign not specified 2018-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000608771 SCV000864081 benign not specified 2018-05-30 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.60_74del15 (p.Glu25_Glu29del, alternative name c.63_77delGGAGGAGGAGGAGGA) results in an in-frame deletion that is predicted to remove 5 amino acids from the encoded protein. The variant allele was found at a frequency of 0.012 in 26780 control chromosomes in the gnomAD database, including 8 homozygotes. The observed variant frequency is more than 5 fold above the estimated maximal expected allele frequency for a pathogenic variant in ALMS1 causing Cardiomyopathy phenotype (0.0022), strongly suggesting that the variant is benign. c.60_74del15 has been reported in the literature in an individual affected with lysinuric protein intolerance. This report does not provide unequivocal conclusions about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and both classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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.