ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8873G>A (p.Arg2958His)

gnomAD frequency: 0.00004  dbSNP: rs574728262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147230 SCV000194599 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2014-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000147230 SCV000896823 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003927440 SCV004742726 uncertain significance PCNT-related condition 2024-01-12 criteria provided, single submitter clinical testing The PCNT c.8873G>A variant is predicted to result in the amino acid substitution p.Arg2958His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.033% of alleles in individuals of South Asian 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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