ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) (rs141274774)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000992579 SCV000520767 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30413633, 25646624)
Athena Diagnostics Inc RCV000992579 SCV001144980 likely benign not provided 2018-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002136 SCV001159991 uncertain significance Polycystic kidney disease, adult type 2019-03-15 criteria provided, single submitter clinical testing The PKD1 c.4055G>A; p.Ser1352Asn variant (rs141274774) is reported in the literature in several individuals affected with autosomal dominant polycystic kidney disease, although its clinical significance was not conclusively determined (Eisenberger 2015, Rossetti 2007). This variant is found in the non-Finnish European population with an overall allele frequency of 0.13% (162/126792 alleles) in the Genome Aggregation Database. The serine at codon 1352 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Ser1352Asn variant is uncertain at this time. References: Eisenberger T et al. An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease. PLoS One. 2015 Feb 3;10(2):e0116680. Rossetti S et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2007 Jul;18(7):2143-60.

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