ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002966620 SCV003281945 pathogenic Combined malonic and methylmalonic acidemia 2022-10-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg558 amino acid residue in ACSF3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21841779, 26827111; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu549*) in the ACSF3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acid(s) of the ACSF3 protein.
Baylor Genetics RCV002966620 SCV005059929 likely pathogenic Combined malonic and methylmalonic acidemia 2024-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002966620 SCV005643697 likely pathogenic Combined malonic and methylmalonic acidemia 2024-06-20 criteria provided, single submitter clinical testing

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