ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)

gnomAD frequency: 0.00001  dbSNP: rs765356942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690205 SCV000817884 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2022-08-01 criteria provided, single submitter clinical testing This sequence change affects codon 423 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 12, which is part of the consensus splice site for this exon. This variant is present in population databases (rs765356942, gnomAD 0.006%). This variant has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 9973285, 30194637). ClinVar contains an entry for this variant (Variation ID: 569548). 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 disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000690205 SCV004211943 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-03-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000690205 SCV001459253 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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