ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)

gnomAD frequency: 0.00002  dbSNP: rs181690344
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147089 SCV000194449 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2013-02-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000147089 SCV003824799 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2022-08-16 criteria provided, single submitter clinical testing
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV000147089 SCV004101378 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2023-11-06 criteria provided, single submitter clinical testing
Invitae RCV003556189 SCV004298817 pathogenic not provided 2023-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln490*) in the PCNT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PCNT are known to be pathogenic (PMID: 18174396, 22821869). This variant is present in population databases (rs181690344, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with microcephalic osteodysplastic primordial dwarfism (PMID: 22821869, 24928221). ClinVar contains an entry for this variant (Variation ID: 159565). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000147089 SCV002073952 not provided Microcephalic osteodysplastic primordial dwarfism type II no assertion provided literature only Colombian founder variant

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