ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter)

gnomAD frequency: 0.00002  dbSNP: rs549779256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001169970 SCV001251684 pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001593305 SCV001814360 pathogenic not provided 2021-01-05 criteria provided, single submitter clinical testing Nonsense 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 a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Solve-RD Consortium RCV004768886 SCV005091484 likely pathogenic Autosomal recessive ataxia, Beauce type 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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