ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs)

dbSNP: rs2151786400
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816167 SCV002063471 pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482347 SCV002787226 pathogenic Polycystic kidney disease, adult type 2021-10-08 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002482347 SCV005087056 pathogenic Polycystic kidney disease, adult type 2023-07-17 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) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported in at least five unrelated individuals with polycystic kidney disease (ClinVar, LOVD, https://pkdb.mayo.edu/). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002482347 SCV005184241 pathogenic Polycystic kidney disease, adult type 2024-07-19 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting+PP4

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