ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)

gnomAD frequency: 0.00412  dbSNP: rs144720929
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232880 SCV000290089 benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001697681 SCV000532670 benign not provided 2018-07-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000441955 SCV000864129 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000441955 SCV000967034 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Gln1534Gln in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.50% (147/9796) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs144720929).
Genetic Services Laboratory, University of Chicago RCV000441955 SCV002070955 benign not specified 2019-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338753 SCV002635466 benign Cardiovascular phenotype 2018-12-26 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. RCV000232880 SCV002080511 likely benign Alstrom syndrome 2019-12-02 no assertion criteria provided clinical testing

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