ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)

dbSNP: rs1558648759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727689 SCV000855027 pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000735878 SCV000864089 likely pathogenic Alstrom syndrome 2018-06-04 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.3569delT (p.Phe1190SerfsX73, alternative name c.3575delT) 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 276804 control chromosomes (gnomAD). To our knowledge, no occurrence of c.3569delT in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000735878 SCV002805995 likely pathogenic Alstrom syndrome 2021-10-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000735878 SCV002080487 likely pathogenic Alstrom syndrome 2021-01-25 no assertion criteria provided clinical testing

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