ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6578C>T (p.Pro2193Leu)

dbSNP: rs368565898
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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 RCV000504187 SCV000596304 likely benign not specified 2016-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003419868 SCV004113581 uncertain significance PCNT-related disorder 2023-01-30 criteria provided, single submitter clinical testing The PCNT c.6578C>T variant is predicted to result in the amino acid substitution p.Pro2193Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.043% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47836410-C-T). 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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