ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)

gnomAD frequency: 0.00001  dbSNP: rs387907118
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000024131 SCV000946481 pathogenic Combined malonic and methylmalonic acidemia 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg523*) 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 (rs387907118, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with combined malonic and methylmalonic aciduria (PMID: 21841779). ClinVar contains an entry for this variant (Variation ID: 31135). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000024131 SCV002796024 pathogenic Combined malonic and methylmalonic acidemia 2022-01-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000024131 SCV004215599 pathogenic Combined malonic and methylmalonic acidemia 2023-09-07 criteria provided, single submitter clinical testing
OMIM RCV000024131 SCV000045422 pathogenic Combined malonic and methylmalonic acidemia 2011-08-14 no assertion criteria provided literature only
Natera, Inc. RCV000024131 SCV002092436 pathogenic Combined malonic and methylmalonic acidemia 2021-09-02 no assertion criteria provided clinical testing

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