ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1804_1805CT[1] (p.Leu602_Cys603insTer) (rs796051917)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185740 SCV000238668 pathogenic not provided 2013-07-02 criteria provided, single submitter clinical testing The c.1806_1807delCT mutation causes the replacement of a Cysteine codon with a Stop codon at position 603, denoted p.Cys603Ter. This mutation is predicted to cause loss of normal protein function through protein truncation. Although this mutation has not been previously reported to our knowledge, it is predicted to be a pathogenic mutation. The variant is found in ACADVL panel(s).
Counsyl RCV000666299 SCV000790568 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-03-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000666299 SCV001364989 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.1806_1807delCT (NP_000009.1:p.Cys603Ter) [GRCH38: NC_000017.11:g.7224863_7224864del] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3

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