ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.478C>T (p.Gln160Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004781988 SCV005393879 likely pathogenic Polycystic kidney disease 2 2024-11-07 criteria provided, single submitter clinical testing This variant was detected in a female with familial nonsyndromic focal epilepsy and polycystic kidney disease. Her mother shares similar phenotypic features, but the segregation molecular genetic analysis was not performed. The relevant medical/scientific publications report on familial transmission of causative PKD2 gene variants and their genotype-phenotype correlation (PMID:11968093;11438989;10023895;9949210;1605247). This novel variant correlates with the clinical manifestation of PKD2. To conclude, the variant is classified as likely pathogenic (ACMG PVS1, PM2).
Fulgent Genetics, Fulgent Genetics RCV004781988 SCV005667904 pathogenic Polycystic kidney disease 2 2024-04-30 criteria provided, single submitter clinical testing

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