ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.622+12C>A

gnomAD frequency: 0.00011  dbSNP: rs374633807
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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 RCV001200794 SCV002769771 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-12-15 reviewed by expert panel curation The NM_000018.4(ACADVL):c.622+12C>A variant in ACADVL is an intronic variant which is located in intron 7. The highest population minor allele frequency in gnomAD v2.1.1 is 0.0027 in South Asian population. The results from two in silico splicing predictors (SpliceSiteFinder-like and NNSPLICE) support that this variant does not affect splicing (BP4). Due to limited evidence, this variant is classified as a variant of unknown significance for autosomal recessive very long chain acyl CoA dehydrogenase (VLCAD) deficiency based on ACMG/AMP criteria applied, as specified by the ClinGen ACADVL Variant Curation Expert Panel: BP4.
GeneDx RCV000603295 SCV000728897 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV001200794 SCV001365178 benign Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.622+12C>A (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7221694C>A] 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001200794 SCV002404531 benign Very long chain acyl-CoA dehydrogenase deficiency 2024-02-01 criteria provided, single submitter clinical testing

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