ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7819C>T (p.Arg2607Ter)

dbSNP: rs749426946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254793 SCV000322177 pathogenic not provided 2015-10-13 criteria provided, single submitter clinical testing The R2607X pathogenic variant in the PCNT gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Nonsense and other protein truncating variants downstream of variant have been reported in the Human Gene Mutation Database in association with microcephalic osteodysplastic primordial dwarfism, type II (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants. The R2607X 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. Therefore we interpret R2607X as a pathogenic variant.

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