ClinVar Miner

Submissions for variant NM_174917.5(ACSF3):c.1567C>T (p.Arg523Ter) (rs387907118)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000024131 SCV000946481 pathogenic Combined malonic and methylmalonic aciduria 2018-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg523*) in the ACSF3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with combined malonic and methylmalonic aciduria (PMID: 21841779). ClinVar contains an entry for this variant (Variation ID: 31135). Loss-of-function variants in ACSF3 are known to be pathogenic (PMID: 21841779, 26827111). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000024131 SCV000045422 pathogenic Combined malonic and methylmalonic aciduria 2011-08-14 no assertion criteria provided literature only

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