ClinVar Miner

Submissions for variant NM_006306.4(SMC1A):c.1192C>T (p.Arg398Ter)

dbSNP: rs886041902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000342065 SCV000330698 pathogenic not provided 2016-07-21 criteria provided, single submitter clinical testing The R398X pathogenic variant in the SMC1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R398X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R398X as a pathogenic variant.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000342065 SCV001446781 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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