ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6575C>G (p.Thr2192Ser) (rs919229409)

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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 RCV001007578 SCV001167208 uncertain significance Polycystic kidney disease, adult type 2019-10-07 criteria provided, single submitter clinical testing This PKD1 variant has not been reported in ClinVar nor the literature, to our knowledge. Additionally this variant (rs919229409) is rare (<0.1%) in large population datasets (gnomAD: 3/31354 total alleles*; 0.009568%; no homozygotes). Three bioinformatic tools queried predict that this substitution would be tolerated, and the threonine residue at this position is not evolutionarily conserved across species assessed. Bioinformatic analysis predicts that this missense variant would not affect normal exon 15 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.6575C>G to be uncertain at this time.

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