ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1731T>C (p.His577=)

gnomAD frequency: 0.00002  dbSNP: rs768761501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697330 SCV000715207 likely benign not provided 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV001460755 SCV001664634 likely benign Alstrom syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404623 SCV002713275 likely benign Cardiovascular phenotype 2021-03-04 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 RCV003488724 SCV004242122 likely benign not specified 2023-12-10 criteria provided, single submitter clinical testing

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