ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.480C>T (p.Val160=)

gnomAD frequency: 0.00002  dbSNP: rs375671065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001271492 SCV001657504 likely benign Combined malonic and methylmalonic acidemia 2024-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913072 SCV004735335 likely benign ACSF3-related condition 2023-03-06 criteria provided, single submitter 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).
Natera, Inc. RCV001271492 SCV001452684 uncertain significance Combined malonic and methylmalonic acidemia 2020-05-01 no assertion criteria provided clinical testing

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