ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.56A>G (p.His19Arg)

gnomAD frequency: 0.00001  dbSNP: rs1446893994
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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 RCV001911024 SCV002163763 uncertain significance Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 19 of the ACADM protein (p.His19Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ACADM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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