ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)

gnomAD frequency: 0.00001  dbSNP: rs119479062
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000004971 SCV000194518 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2013-03-05 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000004971 SCV001438861 likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II criteria provided, single submitter clinical testing
Baylor Genetics RCV000004971 SCV001523583 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2020-02-12 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001851658 SCV002131826 pathogenic not provided 2024-03-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1923*) 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 (rs119479062, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with PCNT-related conditions (PMID: 18174396, 30214071). ClinVar contains an entry for this variant (Variation ID: 4706). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000004971 SCV005374392 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2024-09-22 criteria provided, single submitter clinical testing
OMIM RCV000004971 SCV000025147 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2008-02-08 no assertion criteria provided literature only

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