ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)

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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 RCV003448813 SCV004176566 likely pathogenic Orofaciodigital syndrome type 6 2023-02-14 criteria provided, single submitter clinical testing The frameshift c.3835_3836del(p.Leu1279ValfsTer8) variant in CPLANE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Leu1279ValfsTer8 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes database. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Leucine 1279, changes this amino acid to Valine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Leu1279ValfsTer8. 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. Functional studies are required to prove pathogenicity of the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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