ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter)

dbSNP: rs1567200117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712623 SCV000843140 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001535847 SCV001752458 pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001535847 SCV002768775 pathogenic Polycystic kidney disease, adult type 2020-05-26 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. Predominantly caused by monoallelic variants, with rare reports of bi-allelic variants causing disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 15 of 46). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. Other variants predicted to cause NMD have been reported in ClinVar as pathogenic in individuals with polycystic kidney disease. (P) 0802 - Moderate previous evidence of pathogenicity in unrelated individuals. The variant has been previously reported as pathogenic in patients with polycystic kidney disease (ClinVar, PMID: 22383692, 22508176). (P) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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