ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.305del (p.Cys102fs)

gnomAD frequency: 0.00001  dbSNP: rs760759040
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814483 SCV000954896 pathogenic Combined malonic and methylmalonic acidemia 2022-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys102Serfs*16) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 657796). This premature translational stop signal has been observed in individual(s) with clinical features of combined malonic and methylmalonic aciduria (Invitae). This variant is present in population databases (rs760759040, gnomAD 0.009%).
Baylor Genetics RCV000814483 SCV004210588 likely pathogenic Combined malonic and methylmalonic acidemia 2023-06-28 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.