ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)

gnomAD frequency: 0.00002  dbSNP: rs145583876
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795961 SCV000935443 pathogenic Combined malonic and methylmalonic acidemia 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp230*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 642486). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000795961 SCV004213807 likely pathogenic Combined malonic and methylmalonic acidemia 2023-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV000795961 SCV002092413 pathogenic Combined malonic and methylmalonic acidemia 2021-06-25 no assertion criteria provided clinical testing

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