ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=)

gnomAD frequency: 0.30410  dbSNP: rs11884776
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440420 SCV000524254 benign not specified 2016-09-09 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000440420 SCV000711837 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Thr3186Thr in exon 11 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 57.41% (759/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs11884776).
Invitae RCV000860401 SCV001000443 benign Alstrom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000860401 SCV001769208 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379332 SCV002694640 benign Cardiovascular phenotype 2018-12-21 criteria provided, single submitter clinical testing This alteration is classified as 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. RCV000860401 SCV001453035 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000440420 SCV001922493 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000440420 SCV001962715 benign not specified no assertion criteria provided clinical testing

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