ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8563C>T (p.Arg2855Ter)

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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 RCV003778282 SCV004683528 pathogenic not provided 2023-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2855*) 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 (rs141816832, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003427857 SCV004116606 uncertain significance PCNT-related disorder 2024-05-09 no assertion criteria provided clinical testing The PCNT c.8563C>T variant is predicted to result in premature protein termination (p.Arg2855*). To our knowledge, this variant has not been reported in the literature. While nonsense variants in PCNT are expected to be pathogenic, this variant is located in an exon with differential splicing and is intronic in an alternate transcript (NM_001315529.2; c.8160+49C>T). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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