ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2105T>G (p.Leu702Arg) (rs1596577674)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000696 SCV001157735 uncertain significance Polycystic kidney disease, adult type 2018-07-03 criteria provided, single submitter clinical testing The PKD1 c.2105T>G; p.Leu702Arg variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The leucine at codon 702 is weakly conserved, but computational algorithms (PolyPhen-2: benign, SIFT: damaging) are inconclusive on the effects of this variant on protein structure/function. Due to lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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