ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter)

dbSNP: rs1057516041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000408619 SCV000484438 pathogenic Polycystic kidney disease, adult type 2015-08-03 criteria provided, single submitter clinical testing This nucleotide substitution results in a premature stop codon at position 3528, NP_001009944.2(PKD1): p.(Trp3528*). This is a novel variant, not present in disease or population databases. It segregates with disease in the family.

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