ClinVar Miner

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

dbSNP: rs587784312
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Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002512584 SCV002967100 pathogenic not provided 2024-05-28 criteria provided, single submitter clinical testing 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). This variant is present in population databases (rs768128082, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 159623). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002512584 SCV005333867 likely pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004739471 SCV005348452 pathogenic PCNT-related disorder 2024-09-05 no assertion criteria provided clinical testing The PCNT c.5727_5736del10 variant is predicted to result in a frameshift and premature protein termination (p.Leu1910Glyfs*29). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0060% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in PCNT are expected to be pathogenic. This variant is interpreted as pathogenic.

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