ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) (rs140629318)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152737 SCV000202124 uncertain significance not provided 2015-06-26 criteria provided, single submitter clinical testing
Invitae RCV000702574 SCV000831433 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-09-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 213 of the ACADVL protein (p.Ala213Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs140629318, ExAC 0.01%). This variant has been observed to be homozygous in an individual affected with very long chain acyl-CoA dehydrogenase deficiency (PMID: 10077518). ClinVar contains an entry for this variant (Variation ID: 166643). 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 C0). The observation of one or more missense substitutions at this codon (p.Ala213Pro and p.Ala231Thr) in affected individuals suggests that this may be a clinically significant residue (PMID: 12213615). 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.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000702574 SCV001364897 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.637G>C (NP_000009.1:p.Ala213Pro) [GRCH38: NC_000017.11:g.7221966G>C] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID: 10077518. This variant meets the following evidence codes reported in the ACMG guidelines: PS1, PS3

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