Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197846 | SCV000250054 | pathogenic | not provided | 2015-09-25 | criteria provided, single submitter | clinical testing | The c.477delG mutation in the ELN gene causes a frameshift starting with codon Phenylalanine 160, changes this amino acid to a Serine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Phe160SerfsX23. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This mutation has not been previously reported to our knowledge. This variant was found in ELN |