ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.946-6T>G (rs765793260)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674990 SCV000800411 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV000674990 SCV001420435 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-11-06 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein. This variant is present in population databases (rs765793260, ExAC 0.07%). This variant has been observed in an individuals with a positive newborn screening result for ACADM-related disease (PMID: 22166308). ClinVar contains an entry for this variant (Variation ID: 558685). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 22542437). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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