ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.7126C>T (p.Gln2376Ter) (rs1555993038)

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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,Partners HealthCare Personalized Medicine RCV000601510 SCV000711733 pathogenic Microcephalic osteodysplastic primordial dwarfism type 2 2015-10-22 criteria provided, single submitter clinical testing The p.Gln2376X variant in PCNT has not been previously reported in the literatur e or in large population studies. This nonsense variant leads to a premature ter mination codon at position 2376, which is predicted to lead to a truncated or ab sent protein. Nonsense and other loss of function variants in PCNT are establish ed to be disease causing for microcephalic osteodysplastic primordial dwarfism t ype 2. In summary, this variant meets our criteria to be classified as pathogeni c for microcephalic osteodysplastic primordial dwarfism type 2 in an autosomal r ecessive manner based upon its predicted impact to the protein.

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