Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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. |