ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1077+1G>A (rs140989450)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666633 SCV000790956 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000520772 SCV000616633 pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing The c.1077+1 G>A splice site variant in the ACADVL gene destroys the canonical splice donor site in intron 10. 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. Although the c.1077+1 G>A variant has not been previously reported to our knowledge, it is interpreted to be a pathogenic variant.

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