ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.1265A>T (p.Ter422Leu) (rs200376609)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671393 SCV000796365 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000671393 SCV001417591 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-05-09 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the ACADM mRNA. It is expected to extend the length of the ACADM protein by 9 additional amino acid residues. This variant is present in population databases (rs200376609, ExAC 0.002%). This variant has not been reported in the literature in individuals with ACADM-related conditions. ClinVar contains an entry for this variant (Variation ID: 555552). 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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