ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6349G>A (p.Gly2117Arg)

gnomAD frequency: 0.00001  dbSNP: rs749897159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500668 SCV000596302 uncertain significance not specified 2016-06-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925484 SCV004742920 uncertain significance PCNT-related condition 2024-02-06 criteria provided, single submitter clinical testing The PCNT c.6349G>A variant is predicted to result in the amino acid substitution p.Gly2117Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0040% of alleles in individuals of African descent in gnomAD. 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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