ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3109G>T (p.Glu1037Ter) (rs119479063)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000351291 SCV000329908 pathogenic not provided 2016-03-09 criteria provided, single submitter clinical testing The E1037X pathogenic variant in the PCNT gene has been reported previously in the homozygous state in individuals with MOPDII from consanguineous families (Rauch et al., 2008; Willems et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Fibroblasts from an individual homozygous for the E1037X variant demonstrated abnormal mitotic morphology, low-level mosaic variegated aneuploidy, and premature sister chromatid separation (Rauch et al., 2008). The E1037X 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 E1037X as a pathogenic variant.
OMIM RCV000004973 SCV000025149 pathogenic Microcephalic osteodysplastic primordial dwarfism type 2 2010-12-01 no assertion criteria provided literature only

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