ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)

gnomAD frequency: 0.00005  dbSNP: rs202110907
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866724 SCV001007859 likely benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001549857 SCV001770085 uncertain significance not provided 2020-12-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002372430 SCV002687355 likely benign Cardiovascular phenotype 2022-04-12 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. RCV000866724 SCV001459587 likely benign Alstrom syndrome 2020-01-10 no assertion criteria provided clinical testing

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