ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)

dbSNP: rs1567191145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283786 SCV002572871 pathogenic Polycystic kidney disease, adult type 2022-09-01 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: <0.001%). Frameshift variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with PKD1 -related disorder (PMID: 12007219). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Fulgent Genetics, Fulgent Genetics RCV002283786 SCV005641250 pathogenic Polycystic kidney disease, adult type 2024-05-28 criteria provided, single submitter clinical testing
Genomics And Bioinformatics Analysis Resource, Columbia University RCV002283786 SCV004024077 likely pathogenic Polycystic kidney disease, adult type no assertion criteria provided research

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