ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.1849G>C (p.Glu617Gln)

gnomAD frequency: 0.00002  dbSNP: rs747165033
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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 RCV000500388 SCV000596359 uncertain significance not specified 2015-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409702 SCV004114728 uncertain significance PCNT-related condition 2023-08-28 criteria provided, single submitter clinical testing The PCNT c.1849G>C variant is predicted to result in the amino acid substitution p.Glu617Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47775454-G-C). 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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