ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.833dup (p.Ala279fs)

dbSNP: rs1589745620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008633 SCV001168407 pathogenic not provided 2022-11-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
3billion, Medical Genetics RCV002051909 SCV002318896 pathogenic Hypotonia, ataxia, and delayed development syndrome 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant.It is not observed in the gnomAD v2.1.1 dataset. This variant has been reported as pathogenic (ClinVar ID: VCV000817501, 3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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