Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082543 | SCV000114585 | uncertain significance | not provided | 2013-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001243318 | SCV001416467 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 987 of the PKHD1 protein (p.Leu987Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. 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. ClinVar contains an entry for this variant (Variation ID: 96393). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Fulgent Genetics, |
RCV002483154 | SCV002790423 | uncertain significance | Polycystic kidney disease 4 | 2021-09-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003242979 | SCV003937919 | uncertain significance | Inborn genetic diseases | 2023-05-26 | criteria provided, single submitter | clinical testing | The c.2961G>T (p.L987F) alteration is located in exon 27 (coding exon 26) of the PKHD1 gene. This alteration results from a G to T substitution at nucleotide position 2961, causing the leucine (L) at amino acid position 987 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001243318 | SCV002081008 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-09-11 | no assertion criteria provided | clinical testing |