ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)

gnomAD frequency: 0.00066  dbSNP: rs200491758
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727438 SCV000535897 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727438 SCV000708540 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV001080209 SCV000756163 benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002329000 SCV002627202 likely benign Cardiovascular phenotype 2020-02-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. RCV001080209 SCV001453453 likely benign Alstrom syndrome 2020-01-01 no assertion criteria provided clinical testing

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