ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9715G>A (p.Asp3239Asn)

dbSNP: rs774484157
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003232018 SCV003930236 uncertain significance not provided 2023-05-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Neuberg Centre For Genomic Medicine, NCGM RCV004818309 SCV005438836 uncertain significance Polycystic kidney disease, adult type 2023-07-22 criteria provided, single submitter clinical testing The missense variant c.9715G>A p.Asp3239Asn in the PKD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.001% in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain Significance. However, no details are available for independent assessment. The amino acid Aspartic Acid at position 3239 is changed to an Asparagine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The amino acid change p.Asp3239Asn in PKD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance
Ambry Genetics RCV004961246 SCV005475123 uncertain significance Inborn genetic diseases 2024-09-20 criteria provided, single submitter clinical testing The c.9715G>A (p.D3239N) alteration is located in exon 29 (coding exon 29) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 9715, causing the aspartic acid (D) at amino acid position 3239 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV004818309 SCV005638630 uncertain significance Polycystic kidney disease, adult type 2024-05-23 criteria provided, single submitter clinical testing

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