ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2058del (p.Gly688fs) (rs886039351)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255995 SCV000321601 pathogenic not provided 2016-02-16 criteria provided, single submitter clinical testing The c.2058delA pathogenic variant in the ELN gene, also reported as c.2262delA due to alternative nomenclature, has been reported previously in association with cutis laxa (Tassabehji et al., 1998; Hadj-Rabia et al., 2013). The c.2058delA variant causes a frameshift starting with codon Glycine 688, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 63 of the new reading frame, denoted p.Gly688ValfsX63. This frameshift variant replaces the typical last 37 amino acid residues in the ELN protein with 62 incorrect amino acid residues and may result in a protein with altered structure or function. The c.2058delA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2058delA as a pathogenic variant.

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