ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) (rs28934585)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000077913 SCV000109742 benign not specified 2013-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000077913 SCV000238630 benign not specified 2014-10-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics,PreventionGenetics RCV000077913 SCV000301521 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020076 SCV000406308 benign Very long chain acyl-CoA dehydrogenase deficiency 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000420053 SCV000511302 benign not provided 2016-10-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000020076 SCV000602380 benign Very long chain acyl-CoA dehydrogenase deficiency 2019-04-05 criteria provided, single submitter clinical testing
Invitae RCV000020076 SCV000654948 benign Very long chain acyl-CoA dehydrogenase deficiency 2020-12-04 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000020076 SCV001365174 benign Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.194C>T (NP_000009.1:p.Pro65Leu) [GRCH38: NC_000017.11:g.7220519C>T] variant in ACADVL gene is interpretated to be Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: BS1, BS2
Natera, Inc. RCV000020076 SCV001453211 benign Very long chain acyl-CoA dehydrogenase deficiency 2020-06-09 no assertion criteria provided clinical testing

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