ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.342+15G>A

gnomAD frequency: 0.00004  dbSNP: rs777751102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 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, Molecular and Human Genetics, Baylor College of Medicine 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

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