ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2085dup (p.Ala696fs)

dbSNP: rs1567212531
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000681754 SCV000928155 pathogenic not provided 2019-01-03 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470949 SCV002767438 pathogenic Polycystic kidney disease, adult type 2022-02-02 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 (ClinVar). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. It has been reported at least ten families with autosomal dominant polycystic kidney disease (ClinVar, PKD database mayo clinic, PMID: 31740684). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Athena Diagnostics Inc RCV000681754 SCV002771591 pathogenic not provided 2022-04-05 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
Fulgent Genetics, Fulgent Genetics RCV002470949 SCV002784609 pathogenic Polycystic kidney disease, adult type 2021-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000681754 SCV003798703 pathogenic not provided 2023-02-02 criteria provided, single submitter clinical testing Frameshift 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: 34733539, 31740684, 30586318, 11115377)
Gharavi Laboratory, Columbia University RCV000681754 SCV000809212 pathogenic not provided 2018-09-16 no assertion criteria provided research

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