ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)

gnomAD frequency: 0.00002  dbSNP: rs1464934308
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665145 SCV000789214 uncertain significance Alstrom syndrome 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000665145 SCV001701309 likely benign Alstrom syndrome 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406504 SCV002675301 likely benign Cardiovascular phenotype 2020-03-16 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.
Natera, Inc. RCV000665145 SCV001465808 uncertain significance Alstrom syndrome 2020-08-15 no assertion criteria provided clinical testing

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