ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter)

dbSNP: rs797045112
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190636 SCV000245679 pathogenic Johanson-Blizzard syndrome 2014-09-30 criteria provided, single submitter clinical testing The Cys1369X variant in UBR1 has not been previously reported in individuals with Johanson-Blizzard syndrome (JBS) or in large population studies. This nonsense variant leads to a premature termination codon at position 1369 which is predicted to lead to a truncated or absent protein. Complete loss of UBR1 function is an established disease mechanism in JBS (http://omim.org/entry/605981) .In summary, this variant meets our criteria to be classified as pathogenic for JBS in an autosomal recessive manner (http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/).

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