ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)

dbSNP: rs570233664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801009 SCV000940757 pathogenic Combined malonic and methylmalonic acidemia 2022-01-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp276*) 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). This variant is present in population databases (no rsID available, gnomAD 0.001%). 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: 646673).
Fulgent Genetics, Fulgent Genetics RCV000801009 SCV005641599 likely pathogenic Combined malonic and methylmalonic acidemia 2024-03-25 criteria provided, single submitter clinical testing

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