ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.599+3A>G (rs375921211)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507590 SCV000600035 uncertain significance not specified 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV001247647 SCV001421083 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2019-07-18 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs375921211, ExAC 0.03%). This variant has been observed to be in combination with another ACADM variant in an individual affected with MCAD deficiency (PMID: 20434380). ClinVar contains an entry for this variant (Variation ID: 438863). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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