ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1720del (p.His574fs)

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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 RCV002586865 SCV002943093 uncertain significance Combined malonic and methylmalonic acidemia 2022-03-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. 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. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change results in a frameshift in the ACSF3 gene (p.His574Thrfs*98). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the ACSF3 protein and extend the protein by 94 additional amino acid residues.

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