ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)

dbSNP: rs779820462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039227 SCV001202747 pathogenic Combined malonic and methylmalonic acidemia 2023-11-06 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 (rs779820462, gnomAD 0.0009%). 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: 837811). 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.
Baylor Genetics RCV001039227 SCV004213796 likely pathogenic Combined malonic and methylmalonic acidemia 2023-10-09 criteria provided, single submitter clinical testing

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