Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000671604 | SCV003853590 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2023-02-28 | reviewed by expert panel | curation | The c.342+15G>A variant in ACADVL is an intronic variant in intron 5. The results from MaxEntScn and NNSplice in silico splicing predictors support that this variant does not affect splicing (BP4).The highest population minor allele frequency in gnomAD v2.1.1 is 0.18 in the Latino population. PM2_Supporting, BS1, and BA1 are not met. This variant is classified as a variant of uncertain significance for autosomal recessive VLCAD deficiency based on the ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BP4. (ACADVL VCEP specifications version 1; approved February 2, 2023) |
Counsyl | RCV000671604 | SCV000796592 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Wong Mito Lab, |
RCV000671604 | SCV001365191 | uncertain significance | Very long chain acyl-CoA dehydrogenase deficiency | 2019-11-01 | criteria provided, single submitter | clinical testing | The NM_000018.3:c.342+15G>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220845G>A] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported.This variant dose not meet any evidence codes reported in the ACMG guidelines. |
Invitae | RCV000671604 | SCV002392370 | likely benign | Very long chain acyl-CoA dehydrogenase deficiency | 2024-01-28 | criteria provided, single submitter | clinical testing |