Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000408643 | SCV000484486 | uncertain significance | not provided | 2015-08-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000408643 | SCV001154777 | uncertain significance | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002480259 | SCV002781912 | uncertain significance | Polycystic kidney disease 4 | 2021-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002523837 | SCV003476207 | uncertain significance | Autosomal recessive polycystic kidney disease | 2022-10-30 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 610 of the PKHD1 protein (p.Tyr610Cys). This variant is present in population databases (rs199846197, gnomAD 0.008%). 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: 369725). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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. |
Ambry Genetics | RCV004022128 | SCV005006781 | uncertain significance | Inborn genetic diseases | 2024-02-12 | criteria provided, single submitter | clinical testing | The c.1829A>G (p.Y610C) alteration is located in exon 19 (coding exon 18) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 1829, causing the tyrosine (Y) at amino acid position 610 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |