ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)

dbSNP: rs1912700120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330531 SCV001522239 pathogenic Combined malonic and methylmalonic acidemia 2019-02-15 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001330531 SCV003456058 pathogenic Combined malonic and methylmalonic acidemia 2022-07-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1029287). This variant has not been reported in the literature in individuals affected with ACSF3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp467*) 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).

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