ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7851del (p.Phe2617fs) (rs1220363895)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627589 SCV000748589 likely pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing The c.7851delT variant in the APOB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7851delT variant causes a frameshift starting with codon Phenylalanine 2617, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Phe2617LeufsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7851delT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.7851delT as a likely pathogenic variant,

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