ClinVar Miner

Submissions for variant NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter)

dbSNP: rs137853598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000011538 SCV000996246 pathogenic Polyagglutinable erythrocyte syndrome 2019-02-14 criteria provided, single submitter clinical testing This nonsense variant found in exon 3 of 3 is predicted to result in loss of normal protein function. This variant has been previously reported as a somatic change in patients with Tn Syndrome (PMID: 16251947). Functional characterization of the p.Arg68Ter indicated that the mutant protein resulted in less than 10% of T-synthase activity relative to wild type (PMID: 16251947). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.202C>T, p.Arg68Ter variant is classified as Pathogenic.
OMIM RCV000011538 SCV000031770 pathogenic Polyagglutinable erythrocyte syndrome 2005-10-27 no assertion criteria provided literature only

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