ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=)

gnomAD frequency: 0.02246  dbSNP: rs34617744
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431973 SCV000531896 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.
Invitae RCV001083418 SCV000554312 benign Alstrom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000431973 SCV000711881 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Thr3402Thr in exon 14 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 19.40% (2239/11544 ) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs34617744).
Athena Diagnostics Inc RCV000710527 SCV000840765 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402190 SCV002670578 benign Cardiovascular phenotype 2018-12-28 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. RCV001083418 SCV001453040 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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