ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics,Johns Hopkins University RCV001250509 SCV001425299 uncertain significance Polycystic kidney disease, adult type 2020-03-04 criteria provided, single submitter clinical testing This PKD1 variant (rs889547396) is rare (<0.1%) in a large population dataset (gnomAD: 3/245316 total alleles; 0.001223%; no homozygotes). Additionally, this variant has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be probably damaging, and the arginine residue at this position is evolutionarily conserved across all but one species assessed. Due to insufficient evidence, we consider the clinical significance of this variant to be uncertain at this time.

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