ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)

dbSNP: rs2092327341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287512 SCV001474207 uncertain significance Polycystic kidney disease, adult type 2020-04-04 criteria provided, single submitter clinical testing The PKD1 c.7702A>G; p.Arg2568Gly variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The arginine at codon 2568 is weakly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Arg2568Gly variant is uncertain at this time.
Athena Diagnostics RCV001664799 SCV001879454 uncertain significance not provided 2020-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001287512 SCV002777726 uncertain significance Polycystic kidney disease, adult type 2022-02-23 criteria provided, single submitter clinical testing
GeneDx RCV001664799 SCV005371410 uncertain significance not provided 2023-06-13 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 37024297)

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