ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5972C>G (p.Ser1991Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699957 SCV005205124 pathogenic Alstrom syndrome 2024-06-06 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.5969C>G (p.Ser1990X), also known as c.5975C>G (S1991X) in the RefSeq database, results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 248890 control chromosomes (gnomAD). c.5969C>G has been reported in the literature in individuals affected with Alstrom Syndrome (e.g., Kilinc_2018, Bea-Mascato_2024). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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