ClinVar Miner

Submissions for variant NM_004826.4(ECEL1):c.38del (p.Glu13fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003337845 SCV004048204 likely pathogenic Distal arthrogryposis type 5D criteria provided, single submitter clinical testing The variant c.38del (p.Glu13GlyfsTer8) in ECEL1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu13GlyfsTer8 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Glutamic Acid 13, changes this amino acid to Glycine residue, and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Glu13GlyfsTer8. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Likely Pathogenic.

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