ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) (rs143172658)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537897 SCV000654922 likely benign Very long chain acyl-CoA dehydrogenase deficiency 2020-11-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000537897 SCV001288092 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000537897 SCV001365208 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1239A>G (NP_000009.1:p.Ile413Met) [GRCH38: NC_000017.11:g.7223700A>G] variant in ACADVL gene is interpretated to be Uncertain Significance based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BP4
Mayo Clinic Laboratories, Mayo Clinic RCV001508431 SCV001714579 uncertain significance not provided 2019-07-28 criteria provided, single submitter clinical testing

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