ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)

gnomAD frequency: 0.00016  dbSNP: rs146745096
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000350289 SCV000344319 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765888 SCV000897297 uncertain significance Autosomal recessive polycystic kidney disease 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000765888 SCV001211334 likely benign Autosomal recessive polycystic kidney disease 2024-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000350289 SCV001997393 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000350289 SCV002542183 uncertain significance not provided 2022-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409420 SCV004113463 uncertain significance PKHD1-related disorder 2023-05-15 criteria provided, single submitter clinical testing The PKHD1 c.4447G>A variant is predicted to result in the amino acid substitution p.Glu1483Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.068% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51890161-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005033849 SCV005671372 uncertain significance Polycystic kidney disease 4 2024-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000765888 SCV001459199 uncertain significance Autosomal recessive polycystic kidney disease 2020-09-16 no assertion criteria provided clinical testing

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