ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1678+4A>T (rs1057518417)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412992 SCV000492027 uncertain significance not specified 2016-11-18 criteria provided, single submitter clinical testing The c.1678+4A>T variant in the ACADVL gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice donor site in intron 17, and is expected to cause abnormal gene splicing. The c.1678+4A>T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1678+4A>T as a variant of uncertain significance.

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