ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.799_802del (p.Val267fs) (rs761204548)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410749 SCV000487267 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-11-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000410749 SCV000916403 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-12-05 criteria provided, single submitter clinical testing Variant summary: The ACADVL c.799_802delGTTA (p.Val267GlnfsX8) variant results in a premature termination codon, predicted to cause a truncated or absent ACADVL protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position, c.887_888delCT (p.Pro296fsX17) has been classified as likely pathogenicpathogenic by our laboratory. This variant was found in 1/246302 control chromosomes (gnomAD and publication controls) at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic ACADVL variant (0.0028868). Multiple publications have cited the variant in homozygous affected individuals. In addition, a clinical diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as pathogenic.
Natera, Inc. RCV000410749 SCV001455130 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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