ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)

gnomAD frequency: 0.00002  dbSNP: rs779458466
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652035 SCV000773896 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-12-30 criteria provided, single submitter clinical testing This sequence change affects codon 359 of the ACADVL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ACADVL protein. This variant also falls at the last nucleotide of exon 10, which is part of the consensus splice site for this exon. This variant is present in population databases (rs779458466, gnomAD 0.006%). This variant has been observed in individual(s) with VLCADD and very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (PMID: 26385305, 27246109; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 541717). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000652035 SCV000800050 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2018-05-18 criteria provided, single submitter clinical testing
Suma Genomics RCV000652035 SCV002097339 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency criteria provided, single submitter clinical testing
Baylor Genetics RCV000652035 SCV004217002 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-05-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000652035 SCV002088776 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2021-03-02 no assertion criteria provided clinical testing

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