ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.3710A>G (p.His1237Arg)

gnomAD frequency: 0.00002  dbSNP: rs761299168
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194288 SCV000248468 uncertain significance not specified 2014-09-04 criteria provided, single submitter clinical testing
GeneDx RCV000766886 SCV000618951 uncertain significance not provided 2020-11-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine RCV003444218 SCV004171281 uncertain significance Microcephalic osteodysplastic primordial dwarfism type II criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955167 SCV004783366 uncertain significance PCNT-related condition 2023-12-27 criteria provided, single submitter clinical testing The PCNT c.3710A>G variant is predicted to result in the amino acid substitution p.His1237Arg. 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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