ClinVar Miner

Submissions for variant NM_004429.5(EFNB1):c.453_454TG[4] (p.Arg154fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001174989 SCV001338482 likely pathogenic Craniofrontonasal syndrome 2020-04-20 criteria provided, single submitter clinical testing Variant summary: EFNB1 c.457_458dupTG (p.Arg154AlafsX6) 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 180578 control chromosomes (gnomAD). To our knowledge, no occurrence of c.457_458dupTG in individuals affected with Craniofrontonasal Dysplasia 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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