ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)

gnomAD frequency: 0.00044  dbSNP: rs201874722
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080781 SCV000541345 benign Alstrom syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000493173 SCV000581979 likely benign not provided 2019-04-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080781 SCV001737283 benign Alstrom syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821220 SCV002069396 uncertain significance not specified 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339109 SCV002638753 likely benign Cardiovascular phenotype 2019-03-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. RCV001080781 SCV002080519 benign Alstrom syndrome 2019-11-11 no assertion criteria provided clinical testing

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