ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)

gnomAD frequency: 0.00001  dbSNP: rs899785229
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732634 SCV000860609 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000732634 SCV001872671 uncertain significance not provided 2021-07-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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
Invitae RCV001830626 SCV002251775 uncertain significance Autosomal recessive polycystic kidney disease 2021-10-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PKHD1 protein function. ClinVar contains an entry for this variant (Variation ID: 596715). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1025 of the PKHD1 protein (p.Glu1025Gln).
Fulgent Genetics, Fulgent Genetics RCV002477717 SCV002789957 uncertain significance Polycystic kidney disease 4 2022-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830626 SCV002081005 uncertain significance Autosomal recessive polycystic kidney disease 2019-03-15 no assertion criteria provided clinical testing

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