ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)

dbSNP: rs151020551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171353 SCV000221550 likely pathogenic not provided criteria provided, single submitter research
3billion RCV002051822 SCV002318552 pathogenic Microcephalic osteodysplastic primordial dwarfism type II 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported as pathogenic (ClinVar ID: VCV000191168, PMID:27124789). It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Invitae RCV000171353 SCV004284154 pathogenic not provided 2023-05-26 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: 191168). This premature translational stop signal has been observed in individual(s) with PCNT-related conditions (PMID: 30214071). This variant is present in population databases (rs151020551, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg792*) 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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