ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter)

gnomAD frequency: 0.00001  dbSNP: rs587784321
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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 RCV000147233 SCV000194602 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2013-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000147233 SCV002785287 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2022-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556191 SCV004298829 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2973*) 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 (rs587784321, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with PCNT-related conditions (PMID: 21270239). ClinVar contains an entry for this variant (Variation ID: 159681). For these reasons, this variant has been classified as Pathogenic.

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