ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)

gnomAD frequency: 0.00005  dbSNP: rs370228166
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867467 SCV001008697 likely benign Alstrom syndrome 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345984 SCV002648452 likely benign Cardiovascular phenotype 2019-03-28 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226402 SCV003923071 likely benign not specified 2023-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000867467 SCV001453434 uncertain significance Alstrom syndrome 2020-02-13 no assertion criteria provided clinical testing

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