ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1643A>G (p.Lys548Arg)

gnomAD frequency: 0.00030  dbSNP: rs145163993
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001470961 SCV001675061 likely benign Autosomal recessive polycystic kidney disease 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002561952 SCV003680812 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.1643A>G (p.K548R) alteration is located in exon 18 (coding exon 17) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 1643, causing the lysine (K) at amino acid position 548 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481110 SCV004227259 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing BP4

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