ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.596-59A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003315059 SCV004014566 uncertain significance not provided 2023-01-17 criteria provided, single submitter clinical testing Reported in a patient with polycystic kidney disease in published literature (Raj et al., 2017); clinical information not provided; In silico analysis supports that this variant does not alter splicing; This variant is associated with the following publications: (PMID: 29321346)
3billion RCV005254762 SCV005904728 uncertain significance Polycystic kidney disease 2 2023-06-29 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.003%). Predicted Consequence/Location: Intron variant The variant has been reported to be associated with PKD2 related disorder (PMID: 29321346). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
PreventionGenetics, part of Exact Sciences RCV003928983 SCV004745256 likely benign PKD2-related disorder 2019-09-19 no assertion criteria provided 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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