ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8752C>T (p.Arg2918Ter)

gnomAD frequency: 0.00001  dbSNP: rs119479064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003555918 SCV004298827 pathogenic not provided 2023-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2918*) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4710). This premature translational stop signal has been observed in individual(s) with primordial dwarfism (PMID: 18174396).
OMIM RCV000004975 SCV000025151 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2008-02-08 no assertion criteria provided literature only

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