ClinVar Miner

Submissions for variant NM_003632.3(CNTNAP1):c.1446T>G (p.Tyr482Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448851 SCV004176637 likely pathogenic Neuropathy, congenital hypomyelinating, 3 2023-02-14 criteria provided, single submitter clinical testing The stop gain c.1446T>G (p.Tyr482Ter) variant in CNTNAP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Tyr482Ter variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. The nucleotide change c.1446T>G in CNTNAP1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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