ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)

gnomAD frequency: 0.00021  dbSNP: rs539500659
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000933425 SCV001079124 likely benign Combined malonic and methylmalonic acidemia 2025-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000933425 SCV001457770 uncertain significance Combined malonic and methylmalonic acidemia 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003942917 SCV004756891 likely benign ACSF3-related disorder 2019-03-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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