Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003164886 | SCV003853582 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2023-02-13 | reviewed by expert panel | curation | The c.579C>T (p.Gly193=) variant is a synonymous (silent) variant that is not predicted by Splice AI, MaxEntScn or NNSplice to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by phyloP (BP4, BP7). To our knowledge, this variant is not reported in the medical literature. This variant is absent from gnomAD v2.1.1; however, this is not considered conflicting evidence with BP4 and BP7. In summary, this variant meets the criteria to be classified as likely benign for autosomal recessive very long chain acyl-CoA dehydrogenase (VLCAD) deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BP4, BP7 (ACADVL VCEP specifications version 1; approved November 8, 2021). |
Labcorp Genetics |
RCV003164886 | SCV004384269 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2023-01-28 | criteria provided, single submitter | clinical testing |