Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001496254 | SCV001700950 | likely benign | Autosomal recessive polycystic kidney disease | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973190 | SCV004794918 | likely benign | PKHD1-related disorder | 2021-09-14 | 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). |
Department of Pathology and Laboratory Medicine, |
RCV001292017 | SCV001481092 | uncertain significance | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKHD1 p.Gln57= variant was not identified in the literature nor was it identified in the ClinVar, LOVD 3.0, or the RWTH AAachen University ARPKD database. The variant was identified in the dbSNP database (ID: rs543640706) and in control databases in 15 of 246170 chromosomes at a frequency of 0.00006 (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include Latino in 1 of 33576 chromosomes (freq: 0.00003) and South Asian in 14 of 30782 chromosomes (freq: 0.0005). The variant was not observed in the African, Other, European, Ashkenazi Jewish, East Asian, or Finnish populations. The p.Gln57= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. However, 3 of 5 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predict a greater than 10% difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |