Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003611685 | SCV004372064 | uncertain significance | Autosomal recessive polycystic kidney disease | 2023-07-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3205 of the PKHD1 protein (p.Ile3205Leu). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. 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. |
Ambry Genetics | RCV004371502 | SCV005005334 | uncertain significance | Inborn genetic diseases | 2023-10-10 | criteria provided, single submitter | clinical testing | The c.9613A>C (p.I3205L) alteration is located in exon 58 (coding exon 57) of the PKHD1 gene. This alteration results from a A to C substitution at nucleotide position 9613, causing the isoleucine (I) at amino acid position 3205 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |