ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.607del (p.His203fs)

dbSNP: rs767416279
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV001170009 SCV001251929 likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003546677 SCV004262290 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His203Thrfs*50) 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 (rs767416279, gnomAD 0.0009%). 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: 915399). For these reasons, this variant has been classified as Pathogenic.

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