ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1161del (p.Gly388fs) (rs863223521)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197682 SCV000250057 pathogenic not provided 2014-01-16 criteria provided, single submitter clinical testing The c.1161delC mutation in the ELN gene has been reported previously in association with SVAS (Micale et al., 2010). The deletion causes a frameshift starting with codon Glycine 388, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 86 of the new reading frame, denoted p.Gly388GlufsX86. 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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