Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001405077 | SCV004805219 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2024-02-27 | reviewed by expert panel | curation | The NM_000018.4 c.189A>G (p.Lys63=) variant in ACADVL is a synonymous (silent) variant that is not predicted by SpliceSiteFinder, MaxEntScn and NNSplice to impact splicing. In addition, it occurs at a nucleotide that is weakly conserved as shown by phyloP (BP4, BP7). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, although this variant meets PM2_Supporting, 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 (VCEP specifications v2.0, approved on 09/16/2021). |
Eurofins Ntd Llc |
RCV000152734 | SCV000202121 | uncertain significance | not provided | 2014-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001405077 | SCV001606993 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2024-01-07 | criteria provided, single submitter | clinical testing |