ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)

dbSNP: rs767958353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057166 SCV001221644 pathogenic Combined malonic and methylmalonic acidemia 2023-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly525*) in the ACSF3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the ACSF3 protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of ACSF3-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 852537). 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. For these reasons, this variant has been classified as Pathogenic.

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