Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002654581 | SCV003520773 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 3624 of the PKHD1 protein (p.Thr3624Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 | RCV004072015 | SCV005006766 | uncertain significance | Inborn genetic diseases | 2024-01-16 | criteria provided, single submitter | clinical testing | The c.10870A>G (p.T3624A) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a A to G substitution at nucleotide position 10870, causing the threonine (T) at amino acid position 3624 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |