ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)

dbSNP: rs1057516979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410821 SCV000486537 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-06-21 criteria provided, single submitter clinical testing
Invitae RCV000410821 SCV001236379 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2021-08-28 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000410821 SCV001364956 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.308_309delAA (NP_000009.1:p.Lys103ArgfsTer20) [GRCH38: NC_000017.11:g.7220796_7220797del] 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
GeneDx RCV001580491 SCV001817551 pathogenic not provided 2022-05-01 criteria provided, single submitter clinical testing Reported in a single allele from a cohort of patients referred for analysis of the ACADVL gene after a positive newborn screening result (Miller MJ et al. 2015); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26385305, 27535533)

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