ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) (rs375284481)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000271784 SCV000406312 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-04-28 criteria provided, single submitter clinical testing The ACADVL c.481G>A (p.Ala161Thr) variant has been reported in one study in a compound heterozygous state with another missense variant in one individual with very long-chain-acyl-CoA dehydrogenase (VLCAD) deficiency (Boneh et al. 2006). The variant was also identified in a heterozygous state in the unaffected father. Control data are unavailable for this variant which is reported at a frequency of 0.00017 in the total population of the Exome Aggregation Consortium. The Ala161 residue is conserved. The evidence for this variant is limited. The p.Ala161Thr variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for VLCAD deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Counsyl RCV000271784 SCV000796763 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-12-28 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000271784 SCV001364890 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.481G>A (NP_000009.1:p.Ala161Thr) [GRCH38: NC_000017.11:g.7221541G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 16488171. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3

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