ClinVar Miner

Submissions for variant NM_014875.3(KIF14):c.1921dup (p.Ser641fs)

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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 RCV002302543 SCV002598887 likely pathogenic Joubert syndrome and related disorders 2022-09-27 criteria provided, single submitter clinical testing Variant summary: KIF14 c.1921dupT (p.Ser641PhefsX15) 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 251106 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1921dupT 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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