ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.1194+1G>A (rs769331400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671452 SCV000796428 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-12-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000671452 SCV000918379 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2018-05-21 criteria provided, single submitter clinical testing Variant summary: ACADM c.1194+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5' splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing (Andresen_2012 and Bruun_2013). The variant allele was found at a frequency of 8.2e-06 in 244600 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in ACADM causing Medium Chain Acyl-CoA Dehydrogenase Deficiency (8.2e-06 vs 0.0054), allowing no conclusion about variant significance. c.1194+1G>A has been reported in the literature in individuals affected with Medium Chain Acyl-CoA Dehydrogenase Deficiency. These data indicate that the variant may be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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