ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.724G>A (p.Val242Met)

gnomAD frequency: 0.00115  dbSNP: rs147931950
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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 RCV000504301 SCV000596261 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000504301 SCV000721856 likely benign not specified 2017-08-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000879940 SCV001022996 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925482 SCV004741629 likely benign PCNT-related condition 2021-06-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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