ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.848dup (p.Gly284fs) (rs863223528)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200220 SCV000250067 pathogenic not provided 2014-09-22 criteria provided, single submitter clinical testing The c.848dupC mutation in the ELN gene causes a frameshift starting with codon Glycine 284, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 29 of the new reading frame, denoted p.Gly284TrpfsX29. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant was found in ELN

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