ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)

gnomAD frequency: 0.00006  dbSNP: rs560133266
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861182 SCV001001424 likely benign Autosomal recessive polycystic kidney disease 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003259003 SCV003947586 uncertain significance Inborn genetic diseases 2023-05-30 criteria provided, single submitter clinical testing The c.1816C>T (p.R606W) alteration is located in exon 19 (coding exon 18) of the PKHD1 gene. This alteration results from a C to T substitution at nucleotide position 1816, causing the arginine (R) at amino acid position 606 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003480882 SCV004227256 uncertain significance not provided 2022-10-06 criteria provided, single submitter clinical testing BP4, PM2
PreventionGenetics, part of Exact Sciences RCV003965634 SCV004778314 likely benign PKHD1-related condition 2021-02-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000861182 SCV001463511 uncertain significance Autosomal recessive polycystic kidney disease 2018-05-20 no assertion criteria provided clinical testing

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