Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815536 | SCV000955995 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine with glutamine at codon 3826 of the PKHD1 protein (p.His3826Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs775097870, ExAC 0.006%). 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. 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. |
Natera, |
RCV000815536 | SCV001455052 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-09-16 | no assertion criteria provided | clinical testing |