ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser)

gnomAD frequency: 0.00004  dbSNP: rs544092291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436672 SCV000529844 uncertain significance not provided 2016-07-06 criteria provided, single submitter clinical testing The N1834S variant in the PKD1 gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. This variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The N1834S variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure asthese residues share similar properties. This substitution occurs at a position that is not conserved, andin silico analysis predicts this variant likely does not alter the protein structure/function. We interpretN1834S as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002480314 SCV002790775 uncertain significance Polycystic kidney disease, adult type 2022-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243126 SCV003938055 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.5501A>G (p.N1834S) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a A to G substitution at nucleotide position 5501, causing the asparagine (N) at amino acid position 1834 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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