ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)

dbSNP: rs1313088429
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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 RCV001229626 SCV001402078 pathogenic Combined malonic and methylmalonic acidemia 2023-09-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 956758). This sequence change creates a premature translational stop signal (p.Tyr136*) 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001229626 SCV004214868 likely pathogenic Combined malonic and methylmalonic acidemia 2022-11-08 criteria provided, single submitter clinical testing

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