ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9076G>A (p.Gly3026Arg)

gnomAD frequency: 0.00004  dbSNP: rs146550270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660433 SCV000782523 uncertain significance Autosomal recessive polycystic kidney disease 2016-11-17 criteria provided, single submitter clinical testing
GeneDx RCV001766434 SCV001998176 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004026054 SCV005005331 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.9076G>A (p.G3026R) alteration is located in exon 58 (coding exon 57) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 9076, causing the glycine (G) at amino acid position 3026 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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