ClinVar Miner

Submissions for variant NM_174917.5(ACSF3):c.1405C>T (p.Arg469Ter) (rs748382994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690332 SCV000818014 pathogenic Combined malonic and methylmalonic aciduria 2018-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg469*) in the ACSF3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748382994, ExAC 0.006%). This variant has not been reported in the literature in individuals with ACSF3-related disease. Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics,Fulgent Genetics RCV000690332 SCV000894094 likely pathogenic Combined malonic and methylmalonic aciduria 2018-10-31 criteria provided, single submitter clinical testing

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