ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.709-13A>G

gnomAD frequency: 0.00002  dbSNP: rs746483754
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180448 SCV000232888 uncertain significance not provided 2015-05-18 criteria provided, single submitter clinical testing
Counsyl RCV000669720 SCV000794499 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669720 SCV001560546 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-12-28 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the ACADM gene. It does not directly change the encoded amino acid sequence of the ACADM protein. This variant is present in population databases (rs746483754, gnomAD 0.007%). This variant has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 20434380, 21083904; Invitae). This variant is also known as IVS8-13A>G. ClinVar contains an entry for this variant (Variation ID: 198979). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000669720 SCV004210680 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2024-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000669720 SCV002092849 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-12-01 no assertion criteria provided clinical testing

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