ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)

dbSNP: rs1057516519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412097 SCV000485814 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-02-18 criteria provided, single submitter clinical testing
Invitae RCV000412097 SCV004296685 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp427*) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ACADVL-related conditions (PMID: 10077518, 33150772). ClinVar contains an entry for this variant (Variation ID: 370480). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital RCV000412097 SCV004800852 pathogenic Very long chain acyl-CoA dehydrogenase deficiency no assertion criteria provided clinical testing PVS1+PM2_P+PM3_P+PP4

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