ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)

dbSNP: rs1578153598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788963 SCV000928268 likely pathogenic not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411737 SCV004113506 uncertain significance PKD2-related disorder 2022-09-01 criteria provided, single submitter clinical testing The PKD2 c.2600T>C variant is predicted to result in the amino acid substitution p.Leu867Pro. This variant has been reported as a recurrent variant in patients with polycystic kidney disease, and has been reported to segregate with disease (Robinson et al. 2012. PubMed ID: 22863349; Nielsen et al. 2021. PubMed ID: 33639313). However, it was reported to occur in the compound heterozygous state with a second rare PKD2 variant in at least one of the reported individuals, and the authors of the publication interpreted it as a variant of uncertain significance (see Supplemental Table in Nielsen et al. 2021. PubMed ID: 33639313). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating it is rare. Although we suspect that this variant could possibly be pathogenic, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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