ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.385_387GAG[1] (p.Glu130del) (rs387906251)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001693 SCV000220634 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2014-08-25 criteria provided, single submitter literature only
Invitae RCV000001693 SCV000773898 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-11-19 criteria provided, single submitter clinical testing This variant, c.388_390delGAG, results in the deletion of 1 amino acid(s) of the ACADVL protein (p.Glu130del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750138126, ExAC 0.03%). This variant has been observed as homozygous or as compound heterozygous (in trans) from other pathogenic ACADVL variants in several individuals affected with very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) Deficiency (PMID: 8554073, 10431122, 22847164, 27209629). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 1626). Experimental studies have shown that this change leads to a reduced protein expression in vitro (PMID: 8554073). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001693 SCV000021849 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 1996-01-01 no assertion criteria provided literature only

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