ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.2980C>T (p.Arg994Ter)

gnomAD frequency: 0.00001  dbSNP: rs768317443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001993308 SCV002232303 pathogenic not provided 2024-03-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg994*) 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 (rs768317443, gnomAD 0.002%). 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: 1451665). For these reasons, this variant has been classified as Pathogenic.

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