ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=)

gnomAD frequency: 0.00015  dbSNP: rs201474138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634817 SCV000756161 likely benign Alstrom syndrome 2024-01-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280654 SCV001467930 likely benign not specified 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358783 SCV002621909 likely benign Cardiovascular phenotype 2020-01-14 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 RCV000634817 SCV002810620 likely benign Alstrom syndrome 2021-08-30 criteria provided, single submitter clinical testing

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