ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.387+1delG (rs786204424)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169015 SCV000220157 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2014-03-18 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000383616 SCV000331022 uncertain significance not provided 2015-10-01 criteria provided, single submitter clinical testing
Invitae RCV000169015 SCV000818999 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-08-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the ACADM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs754904305, ExAC 0.01%). This variant has been reported in combination with a second variant in individuals affected with medium-chain acyl-CoA dehydrogenase deficiency (PMID: 15832312, 23028790). This variant is also known as IVS5+1delG in the literature. ClinVar contains an entry for this variant (Variation ID: 188719). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACADM are known to be pathogenic (PMID: 16121256, 20434380). For these reasons, this variant has been classified as Pathogenic.

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