Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698687 | SCV000827367 | uncertain significance | Autosomal recessive polycystic kidney disease | 2022-08-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 48 of the PKHD1 protein (p.Gly48Asp). This variant is present in population databases (rs557361225, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 576238). 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. 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. |
Eurofins Ntd Llc |
RCV000729487 | SCV000857155 | uncertain significance | not provided | 2017-09-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477594 | SCV000897306 | uncertain significance | Polycystic kidney disease 4 | 2022-03-17 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003420239 | SCV004109500 | uncertain significance | PKHD1-related condition | 2023-03-14 | criteria provided, single submitter | clinical testing | The PKHD1 c.143G>A variant is predicted to result in the amino acid substitution p.Gly48Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51947328-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Natera, |
RCV000698687 | SCV001453469 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-05-05 | no assertion criteria provided | clinical testing |