ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs)

dbSNP: rs587784312
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147153 SCV000194516 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2013-03-05 criteria provided, single submitter clinical testing
Invitae RCV002512584 SCV002967100 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 159623). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. This variant is present in population databases (rs768128082, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Leu1910Glyfs*29) 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).

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