ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3460G>T (p.Glu1154Ter)

dbSNP: rs387906928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000023500 SCV003824788 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2022-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556077 SCV004298821 pathogenic not provided 2023-07-29 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: 30543). This premature translational stop signal has been observed in individual(s) with clinical features of microcephalic osteodysplastic primordial dwarfism (PMID: 21567919, 32267100). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu1154*) 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).
OMIM RCV000023500 SCV000044791 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2011-06-01 no assertion criteria provided literature only

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