ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6784G>C (p.Gly2262Arg) (rs1567191274)

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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 RCV000757650 SCV000885950 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing The PKD1 c.6784G>C, p.Gly2262Arg variant has not been reported in the medical literature, listed in gene-specific variant databases, nor observed in the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). The glycine at residue 2262 is highly conserved, and computational algorithms (Mutation Taster, PolyPhen-2, SIFT) predict that the variant has an impact on the protein. Due to the limited information regarding the p.GLy2262Arg variant, its clinical significance could not be determined with certainty.

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