ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)

dbSNP: rs2151521127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382481 SCV001581256 pathogenic Combined malonic and methylmalonic acidemia 2020-09-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). This variant has not been reported in the literature in individuals with ACSF3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr443Ilefs*62) in the ACSF3 gene. It is expected to result in an absent or disrupted protein product.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001382481 SCV003928728 likely pathogenic Combined malonic and methylmalonic acidemia 2023-04-17 criteria provided, single submitter clinical testing Variant summary: ACSF3 c.1328delC (p.Thr443IlefsX62) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position are classified as pathogenic in ClinVar. The variant was absent in 251426 control chromosomes. To our knowledge, no occurrence of c.1328delC in individuals affected with Combined Malonic And Methylmalonic Aciduria and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has provided a clinical-significance assessment for this variant to ClinVar after 2014, and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV001382481 SCV004212554 likely pathogenic Combined malonic and methylmalonic acidemia 2023-01-19 criteria provided, single submitter clinical testing

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