ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.16del (p.Val6fs)

dbSNP: rs1338859307
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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 RCV001970116 SCV002229341 pathogenic Combined malonic and methylmalonic acidemia 2021-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val6Cysfs*112) 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 RCV001970116 SCV004212532 likely pathogenic Combined malonic and methylmalonic acidemia 2023-02-13 criteria provided, single submitter clinical testing

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