ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)

dbSNP: rs2151444797
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380093 SCV001578039 pathogenic Combined malonic and methylmalonic acidemia 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr297*) 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 not present in population databases (gnomAD no frequency). 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: 1068495). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001380093 SCV002021716 pathogenic Combined malonic and methylmalonic acidemia 2019-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001380093 SCV002786793 likely pathogenic Combined malonic and methylmalonic acidemia 2022-05-27 criteria provided, single submitter clinical testing
Baylor Genetics RCV001380093 SCV004216526 likely pathogenic Combined malonic and methylmalonic acidemia 2022-08-09 criteria provided, single submitter clinical testing

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