ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) (rs1419606204)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668005 SCV000792545 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-08-07 criteria provided, single submitter clinical testing
Invitae RCV000668005 SCV001210497 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 454 of the ACADVL protein (p.Asp454Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with very long chain acyl-CoA dehydrogenase deficiency (PMID: 9973285). This variant is also known as p.D414N in the literature. ClinVar contains an entry for this variant (Variation ID: 552697). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000668005 SCV001364923 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1360G>A (NP_000009.1:p.Asp454Asn) [GRCH38: NC_000017.11:g.7223995G>A] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 9973285. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3

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