ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)

dbSNP: rs1189678912
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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 RCV002223097 SCV002500828 likely pathogenic Joubert syndrome and related disorders 2022-03-03 criteria provided, single submitter clinical testing Variant summary: CEP104 c.1867_1870delTATG (p.Tyr623ArgfsX48) 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 allele was found at a frequency of 4e-06 in 251436 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1867_1870delTATG in individuals affected with Joubert Syndrome And Related Disorders 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.

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