ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.-17C>G (rs367734665)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211541 SCV000268434 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
GeneDx RCV000498567 SCV000590781 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing The c.-17 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.-17 C>G variant is observed in 5/10186 (0.05%) alleles from individuals of African background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This nucleotide substitution occurs at a position that is not conserved. Several in-silico splice prediction models predict that c.-17 C>G does not affect normal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Counsyl RCV000211541 SCV000793503 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-08-17 criteria provided, single submitter clinical testing

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