ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)

gnomAD frequency: 0.00002  dbSNP: rs201954387
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426583 SCV000517437 likely pathogenic not provided 2021-01-05 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 41 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21841779)
Labcorp Genetics (formerly Invitae), Labcorp RCV001062791 SCV001227614 pathogenic Combined malonic and methylmalonic acidemia 2024-07-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp536*) in the ACSF3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acid(s) of the ACSF3 protein. This variant is present in population databases (rs201954387, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. ClinVar contains an entry for this variant (Variation ID: 379920). 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). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001062791 SCV002021282 likely pathogenic Combined malonic and methylmalonic acidemia 2021-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001062791 SCV002810426 likely pathogenic Combined malonic and methylmalonic acidemia 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001062791 SCV004213862 likely pathogenic Combined malonic and methylmalonic acidemia 2024-03-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001062791 SCV002092438 likely pathogenic Combined malonic and methylmalonic acidemia 2020-10-20 no assertion criteria provided clinical testing

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