ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1685A>G (p.Gln562Arg) (rs1185676416)

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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 RCV000756520 SCV000884354 uncertain significance not provided 2018-06-06 criteria provided, single submitter clinical testing The PKD1 c.1685A>G; p.Gln562Arg variant, to our knowledge, is not reported in the medical literature or gene specific databases, and is only observed on 1 allele in the Genome Aggregation Database. The glutamine at codon 562 is weakly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty.

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