ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=)

gnomAD frequency: 0.00001  dbSNP: rs368270850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666555 SCV000790863 likely benign Alstrom syndrome 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV000666555 SCV001096562 likely benign Alstrom syndrome 2023-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163060 SCV003857277 likely benign Cardiovascular phenotype 2022-12-17 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 RCV003226353 SCV003923074 likely benign not specified 2023-03-06 criteria provided, single submitter clinical testing

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