Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001360680 | SCV001556610 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with lysine at codon 1243 of the PKHD1 protein (p.Thr1243Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is present in population databases (rs774865280, ExAC 0.002%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 | RCV002550010 | SCV003724163 | uncertain significance | Inborn genetic diseases | 2021-07-20 | criteria provided, single submitter | clinical testing | The c.3728C>A (p.T1243K) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a C to A substitution at nucleotide position 3728, causing the threonine (T) at amino acid position 1243 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Laboratory of Gastroenterology and Hepatology, |
RCV001844858 | SCV001876995 | uncertain significance | Autosomal dominant polycystic liver disease | 2021-09-01 | no assertion criteria provided | research | |
Natera, |
RCV001360680 | SCV002080988 | uncertain significance | Autosomal recessive polycystic kidney disease | 2019-07-05 | no assertion criteria provided | clinical testing |