ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser)

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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 RCV001250574 SCV001425434 uncertain significance Polycystic kidney disease, adult type 2020-02-20 criteria provided, single submitter clinical testing This PKD1 c.4057G>A has been reported in a patient with clinically diagnosed autosomal dominant polycystic kidney disease. This variant (rs1474271392) is rare (<0.1%) in a large population dataset (gnomAD: 2/247870 total alleles; 0.00081%; no homozygotes) and has not been reported in ClinVar, to our knowledge. PKD1 c.4057G>A is located within the PKD repeat domain, however, the importance of this region is unclear at this time. Three bioinformatic tools queried predict that this substitution would be damaging, and the glycine residue at this position is highly evolutionarily conserved across all species assessed. Due to insufficient evidence that this variant is deleterious, we consider the clinical significance of c.4057G>A to be uncertain at this time.

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