ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)

gnomAD frequency: 0.00004  dbSNP: rs199967386
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001503597 SCV001708453 likely benign Alstrom syndrome 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001762702 SCV002000363 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing Observed in 6/128440 (0.0047%) alleles from individuals in large population cohorts (Lek et al., 2016).; In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002359128 SCV002656285 likely benign Cardiovascular phenotype 2020-03-04 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.

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