ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter)

dbSNP: rs778979740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095592 SCV001251227 pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PVS1, PM2, PP4
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV001095592 SCV004801809 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a premature translation stop signal p.Glu2635Ter in the PKD1 gene. The variant was observed in heterozygous state in an individual affected with familial polycystic kidney disease. Loss-of-function variants are reported in patients with Polycystic kidney disease 1, 173900. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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