ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.192del (p.Lys64fs) (rs771055189)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669061 SCV000793762 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-08-30 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000669061 SCV001364951 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.192delA (NP_000009.1:p.Lys64AsnfsTer53) [GRCH38: NC_000017.11:g.7220517delA] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3
Invitae RCV000669061 SCV001578416 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys64Asnfs*53) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual with a positive newborn screening result for ACADVL-related disease (PMID: 26385305). ClinVar contains an entry for this variant (Variation ID: 553583). Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). For these reasons, this variant has been classified as Pathogenic.

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