ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=)

gnomAD frequency: 0.00004  dbSNP: rs201598829
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825704 SCV000967152 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Arg3619Arg in exon 16 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.01% (6/66646) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs201598829).
Invitae RCV001454104 SCV001657816 likely benign Alstrom syndrome 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427081 SCV002728684 likely benign Cardiovascular phenotype 2019-06-10 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics RCV001454104 SCV002799159 likely benign Alstrom syndrome 2021-09-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001454104 SCV002078989 likely benign Alstrom syndrome 2021-01-13 no assertion criteria provided clinical testing

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