Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001200795 | SCV003936883 | benign | Very long chain acyl-CoA dehydrogenase deficiency | 2023-04-25 | reviewed by expert panel | curation | The c.879-50G>T variant in ACADVL is an intronic variant in intron 9. The highest population minor allele frequency in gnomAD v2.1.1 is 0.06975 (6.975%) in the African/African American population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (>=0.007) for BA1, and therefore meets this criterion (BA1). In summary, this variant meets the criteria to be classified as benign for autosomal recessive VLCAD deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BA1 (ACADVL VCEP specifications version 1; approved November 8, 2021). |
Wong Mito Lab, |
RCV001200795 | SCV001365180 | benign | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.879-50G>T (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7222617G>T] variant in ACADVL gene is interpretated to be Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BS1, BS2 |
Gene |
RCV001683751 | SCV001900465 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |