ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) (rs17009061)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421321 SCV000531895 benign not specified 2016-10-03 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445423 SCV000536974 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BP4 (REVEL score 0.039 + 7 predictors), BS1 (17.7% MAF in gnomAD Latino, overall MAF 3%), BA1 (641 homozygotes in gnomAD), BP1 (missense in gene with truncating cause disease): Benign; likely in cis with the other ALMS1 variant
Invitae RCV001083419 SCV000554314 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000421321 SCV000711880 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Arg1928Gln in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 19.32% (2222/11500) of Latino chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs17009061).
Athena Diagnostics Inc RCV000710533 SCV000840773 benign not provided 2018-08-10 criteria provided, single submitter clinical testing

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