ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter)

dbSNP: rs369195346
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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 RCV000147151 SCV000194512 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2013-09-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000147151 SCV001523582 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2019-09-16 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 RCV003556190 SCV004298826 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1860*) 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 (rs369195346, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) (PMID: 19643772). ClinVar contains an entry for this variant (Variation ID: 159621). For these reasons, this variant has been classified as Pathogenic.

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