ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)

gnomAD frequency: 0.00001  dbSNP: rs1243213118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047795 SCV001211775 pathogenic Combined malonic and methylmalonic acidemia 2023-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 844844). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Trp437*) 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).
Genome-Nilou Lab RCV001047795 SCV001810252 pathogenic Combined malonic and methylmalonic acidemia 2021-07-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001047795 SCV004215610 likely pathogenic Combined malonic and methylmalonic acidemia 2023-08-30 criteria provided, single submitter clinical testing

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