ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)

dbSNP: rs1578135842
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788930 SCV000928227 likely pathogenic not provided 2019-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000788930 SCV002562331 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26150605)
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470979 SCV002767244 pathogenic Polycystic kidney disease 2 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 2 (MIM#613095). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to aspartic acid. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0600 - Variant is located in the annotated PKD channel domain (NCBI, PDB, DECIPHER). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0803 - This variant has limited previous evidence of pathogenicity in unrelated individuals. It has been reported as a VUS and as likely pathogenic in individuals with autosomal dominant polycystic kidney disease (ClinVar, PMID: 26150605). (SP) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1204 - Variant shown to be de novo in proband (parental status not tested but assumed). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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