Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731428 | SCV000859245 | uncertain significance | not provided | 2018-01-19 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001158954 | SCV001320628 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-06-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Invitae | RCV001158954 | SCV001422054 | uncertain significance | Autosomal recessive polycystic kidney disease | 2022-09-06 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 4 of the PKHD1 gene. It does not directly change the encoded amino acid sequence of the PKHD1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs535210707, gnomAD 0.05%). 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: 595783). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. |
Prevention |
RCV003908043 | SCV004727075 | likely benign | PKHD1-related condition | 2022-03-21 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV001158954 | SCV002083419 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-06-12 | no assertion criteria provided | clinical testing |