ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003475649 SCV004212543 likely pathogenic Combined malonic and methylmalonic acidemia 2023-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003475649 SCV004480637 pathogenic Combined malonic and methylmalonic acidemia 2023-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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.Trp192*) in the ACSF3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111).

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