ClinVar Miner

Submissions for variant NM_000018.3(ACADVL):c.1153C>T (p.Arg385Trp) (rs745832866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668844 SCV000793516 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-08-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173952 SCV000225144 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000668844 SCV000915778 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-11-20 criteria provided, single submitter clinical testing The ACADVL c.1156C>T (p.Arg385Trp) is a missense variant that has been reported in at least five studies and found in at least five individuals with VLCAD deficiency, including a sibling pair, in a compound heterozygous state with a unique missense variant in each case (Boneh et al. 2006; Wasibren et al. 2013; Yamamoto et al. 2015; Evans et al. 2016; Merinero et al. 2017). This variant was inherited from the unaffected mother in a heterozygous state (Merinero et al. 2017) and is reported at a frequency of 0.000208 in the Latino population of the Genome Aggregation Database. Based on the collective evidence, the p.Arg386Cys variant is classified as likely pathogenic for VLCAD deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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