ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)

gnomAD frequency: 0.01854  dbSNP: rs28730853
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443791 SCV000531894 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 RCV000445426 SCV000536971 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BP4 (REVEL score 0.033 + 7 predictors, not using PP3/2 predictors), BA1 (17.7% in gnomAD latino, 3% overall MAF), BS2 (652 homozygotes in gnomAD), BP1 (missense in gene with truncating cause disease): Benign; likely in cis with the other ALMS1 variant
Invitae RCV001079465 SCV000554303 benign Alstrom syndrome 2021-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000443791 SCV000711882 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys1653Asn in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 19.52% (2252/11536) of Latino chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs28730853).
Athena Diagnostics Inc RCV000710532 SCV000840772 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079465 SCV001463046 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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