ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) (rs115444326)

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Total submissions: 5
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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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727320 SCV000707542 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000592736 SCV000724956 likely benign not specified 2017-11-24 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.
Invitae RCV001081278 SCV001000755 likely benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare 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.

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