ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)

dbSNP: rs786204738
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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 RCV000169585 SCV002576783 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2022-03-08 reviewed by expert panel curation The c.433C>T (p.Gln145Ter) variant in ACADVL is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 6/20 leading to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1; PMIDs 9973285, 11590124). This variant is absent from gnomAD v2.11 (PM2_Supporting). The ACADVL Variant Curation Expert Panel VCEP classified the variant as likely pathogenic based on PVS1+PM2_supporting (VCEP specifications v2.0, approved on 09/16/2021).
Counsyl RCV000169585 SCV000221092 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2015-01-28 criteria provided, single submitter literature only
Invitae RCV000169585 SCV001410923 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2022-10-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 189159). This variant is also known as Q105X. This premature translational stop signal has been observed in individual(s) with ACADVL-related conditions (PMID: 9973285, 10384387). This sequence change creates a premature translational stop signal (p.Gln145*) 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).
Baylor Genetics RCV000169585 SCV004210856 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2023-09-21 criteria provided, single submitter clinical testing

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