ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.*5delA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002612035 SCV003509042 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2024-01-02 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the ACADM gene. It does not change the encoded amino acid sequence of the ACADM protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ACADM-related conditions. ClinVar contains an entry for this variant (Variation ID: 2190068). 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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