ClinVar Miner

Submissions for variant NM_000078.3(CETP):c.953_962del (p.Phe318fs)

gnomAD frequency: 0.00001  dbSNP: rs779824367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490022 SCV000577162 likely pathogenic not provided 2017-04-07 criteria provided, single submitter clinical testing The c.953_962del10 variant in the CETP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.953_962del10 variant causes a frameshift starting with codon Phenylalanine 318, changes this amino acid to a Serine residue, and creates a premature Stop codon at position 41 of the new reading frame, denoted p.Phe318SerfsX41. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.953_962del10 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.953_962del10 as a likely pathogenic variant.

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