ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)

gnomAD frequency: 0.00941  dbSNP: rs78039319
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233437 SCV000290092 benign Alstrom syndrome 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000428195 SCV000524247 benign not specified 2016-12-05 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 RCV000445537 SCV000536973 benign Monogenic diabetes 2019-02-15 criteria provided, single submitter research ACMG criteria: BP4 (REVEL 0.049 + 6 predictors; not using PP3 (2 predictors)), BP1 (missense when truncating cause ds), BS2 (18 homozygotes in gnomAD), BA1 (3.4% MAF in gnomAD African): Benign ( ALMS1 p.P2184S and p.K1810N are likely in LD)
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000428195 SCV000711811 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Lys1810Asn in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 3.30% (320/9702) of African chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs78039319).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000233437 SCV002506092 benign Alstrom syndrome 2022-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000233437 SCV001463048 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000428195 SCV002034140 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795371 SCV002036999 likely benign not provided no assertion criteria provided clinical testing

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