ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.477del (p.Phe160fs) (rs863223519)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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