ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)

dbSNP: rs777269070
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626719 SCV000747422 pathogenic Polycystic kidney disease 2017-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266481 SCV001444656 pathogenic Inborn genetic diseases 2017-08-07 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470937 SCV002768103 pathogenic Polycystic kidney disease, adult type 2021-05-06 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with polycystic kidney disease 1 (MIM#173900). (I) 0107 - This gene is associated with autosomal dominant disease. Polycystic kidney disease 1 (MIM#173900) is predominantly caused by monoallelic variants, with rare reports of biallelic variants causing disease (OMIM). (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v2) <0.001 for a dominant condition (1 heterozygote, 0 homozygotes). (SP) 0701 - Other NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. Many other loss of function variants have previously been reported as pathogenic in individuals with polycystic kidney disease 1 (MIM#173900) (ClinVar, DECIPHER, PMID: 31807928). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. The variant has previously been reported as pathogenic in multiple individuals with polycystic kidney disease 1 (MIM#173900) (ClinVar, LOVD, PMID: 31807928). (SP) 1102 - Strong phenotype match for this individual. (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Fulgent Genetics, Fulgent Genetics RCV002470937 SCV002812167 pathogenic Polycystic kidney disease, adult type 2022-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000681769 SCV003927588 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30586318, 30369598, 22508176)
Gharavi Laboratory, Columbia University RCV000681769 SCV000809230 pathogenic not provided 2018-09-16 no assertion criteria provided research

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