Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734289 | SCV000862419 | uncertain significance | not provided | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855807 | SCV002118642 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with serine at codon 243 of the PKHD1 protein (p.Ala243Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs773601448, ExAC 0.006%). This variant has not been reported in the literature in individuals with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 598005). 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. |