ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1101del (p.Val368fs) (rs863223520)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195493 SCV000250056 pathogenic not provided 2014-05-13 criteria provided, single submitter clinical testing The c.1101delT mutation in the ELN gene causes a frameshift starting with codon Valine 368, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 106 of the new reading frame, denoted p.Val368CysfsX106. 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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