ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.138+2dup (rs1555527548)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523516 SCV000618411 likely pathogenic not provided 2017-05-02 criteria provided, single submitter clinical testing The c.138+2dupT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases. The c.138+2dupT splice site variant is expected to destroy the canonical splice donor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. In summary, we interpret this variant as likely pathogenic.
Counsyl RCV000666464 SCV000790761 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2017-04-24 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000666464 SCV001364949 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2019-11-01 criteria provided, single submitter clinical testing The NM_000018.3:c.138+2dupT (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220199dupT] 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
Natera, Inc. RCV000666464 SCV001455120 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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