Submissions for variant NM_000018.3(ACADVL):c.-64T>C

gnomAD frequency: 0.00545  dbSNP: rs77051465

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen	RCV000299039	SCV002576757	benign	Very long chain acyl-CoA dehydrogenase deficiency	2022-09-22	reviewed by expert panel	curation	The c.-64T>C variant in ACADVL is a 5' UTR variant. The highest population minor allele frequency in gnomAD v2.1.1 is 0.008890 in the European non-Finnish population, which is higher than the ClinGen ACADVL Variant Curation Expert Panel threshold (≥0.007) for BA1, and therefore meets this criterion (BA1). The results from in silico splicing predictors (Alamut) support that this variant does not affect splicing, nor create a start codon (BP4). In summary, this variant meets the criteria to be classified as 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: BA1, BP4.
Illumina Laboratory Services, Illumina	RCV000299039	SCV000406301	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000299039	SCV001737204	uncertain significance	Very long chain acyl-CoA dehydrogenase deficiency	2021-05-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004694365	SCV005192647	uncertain significance	not provided		criteria provided, single submitter	not provided