ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)

dbSNP: rs115444326
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445480 SCV000536966 likely benign Monogenic diabetes 2017-12-08 criteria provided, single submitter research ACMG criteria: BP4 (8 predictors), BP1 (missense in gene with truncating cause disease), (no homozygotes in ExAC)= likely benign
Eurofins Ntd Llc (ga) RCV000727320 SCV000707542 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000727320 SCV000724956 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Invitae RCV001081278 SCV001000755 likely benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000592736 SCV001365668 likely benign not specified 2020-01-14 criteria provided, single submitter clinical testing The p.Arg681Gly variant in ALMS1 is classified as likely benign because it has been identified in 0.3% (74/24186) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Ambry Genetics RCV002418344 SCV002722690 likely benign Cardiovascular phenotype 2021-07-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001081278 SCV002080438 benign Alstrom syndrome 2019-10-22 no assertion criteria provided clinical testing

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