ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.6651G>T (p.Gly2217=)

gnomAD frequency: 0.00006  dbSNP: rs755119869
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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 RCV000194472 SCV000248485 uncertain significance not specified 2015-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401055 SCV004105772 uncertain significance PCNT-related condition 2022-09-30 criteria provided, single submitter clinical testing The PCNT c.6651G>T variant is not predicted to result in an amino acid change (p.=). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/21-47836483-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Invitae RCV003765232 SCV004611223 likely benign not provided 2023-02-27 criteria provided, single submitter clinical testing

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