ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.261del (p.Cys88fs)

dbSNP: rs775569136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211942 SCV001383510 pathogenic Combined malonic and methylmalonic acidemia 2023-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys88Valfs*30) 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 (rs775569136, gnomAD 0.01%). 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: 942038). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001211942 SCV004213762 likely pathogenic Combined malonic and methylmalonic acidemia 2023-10-17 criteria provided, single submitter clinical testing

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