Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487087 | SCV000572531 | likely pathogenic | not provided | 2016-12-30 | criteria provided, single submitter | clinical testing | The c.602_603delAC variant in the ACADVL gene causes a frameshift starting with codon Tyrosine 201, changes this amino acid to a Serine residue and creates a premature Stop codon at position 51 of the new reading frame, denoted p.Tyr201SerfsX51. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is expected to be a likely pathogenic variant. |
Molecular Diagnostics Laboratory, |
RCV003322775 | SCV004028496 | pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2023-05-10 | criteria provided, single submitter | clinical testing |