The c.2614C>T variant leads to a premature stop codon at position 872 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the PKD2 gene are an established mechanism of disease in in autosomal dominant polycystic kidney disease and is the type of variant expected to cause the disorder.

2023年5月26日 · NM_000297.4 (PKD2):c.2614C>T (p.Arg872Ter) AND Polycystic kidney disease 2 Germline classification: Pathogenic (7 submissions) Last evaluated: May 26, 2023 Review status: Somatic classification of clinical impact: None Review status: (0/4) Somatic classification of oncogenicity: None Review status: (0/4) Record status: current Accession: RCV000763531.10 Allele description [Variation Report for ...

ClinVar archives and aggregates information about relationships among variation and human health.

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