ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)

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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 RCV002791548 SCV003196849 pathogenic Combined malonic and methylmalonic acidemia 2022-05-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ACSF3 protein in which other variant(s) (p.Arg558Trp) have been determined to be pathogenic (PMID: 21841779, 26827111; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it 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.Tyr544*) in the ACSF3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 33 amino acid(s) of the ACSF3 protein.

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