ClinVar Miner

Submissions for variant NM_000016.5(ACADM):c.984del (p.Met328fs) (rs747610156)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211482 SCV000268490 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2015-02-20 criteria provided, single submitter clinical testing
Counsyl RCV000211482 SCV000795383 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV000211482 SCV000941321 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met328Ilefs*5) in the ACADM gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ACADM-related disease. ClinVar contains an entry for this variant (Variation ID: 226096). Loss-of-function variants in ACADM are known to be pathogenic (PMID: 16121256, 20434380). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000211482 SCV001461472 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2020-09-16 no assertion criteria provided clinical testing

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