ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs) (rs587784302)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147105 SCV000194465 pathogenic Microcephalic osteodysplastic primordial dwarfism type 2 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000296415 SCV000329907 pathogenic not provided 2016-02-18 criteria provided, single submitter clinical testing The c.2984_2994del11 pathogenic variant in the PCNT gene has been reported previously in an individual with MOPDII who was homozygous for this change (Rauch et al., 2008). The deletion causes a frameshift starting with codon Alanine 995, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 59 of the new reading frame, denoted p.Ala995GlyfsX59. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, GeneDx interprets c.2984_2994del11 as a pathogenic variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000296415 SCV000342265 pathogenic not provided 2016-06-22 criteria provided, single submitter clinical testing

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