ClinVar Miner

Submissions for variant NM_001243279.3(ACSF3):c.1721dup (p.His574fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001254594 SCV001430581 likely pathogenic Combined malonic and methylmalonic aciduria 2019-06-20 criteria provided, single submitter clinical testing
GeneDx RCV001559843 SCV001782152 uncertain significance not provided 2020-09-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Frameshift variant predicted to result in protein truncation as the last 3 amino acids are replaced with 45 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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