Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891982 | SCV000315785 | likely benign | PKHD1-related disorder | 2023-06-30 | 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). |
Eurofins Ntd Llc |
RCV000725680 | SCV000338551 | uncertain significance | not provided | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086206 | SCV000545841 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000254512 | SCV001362922 | uncertain significance | not specified | 2019-05-20 | criteria provided, single submitter | clinical testing | Variant summary: PKHD1 c.2243C>T (p.Ala748Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00024 in 282530 control chromosomes, predominantly at a frequency of 0.0022 within the African subpopulation in the gnomAD database. This frequency is not higher than the expected maximum for a pathogenic variant in PKHD1 causing Polycystic Kidney and Hepatic Disease (0.0022 vs 0.0071), allowing no conclusion about variant significance. c.2243C>T has been reported in the literature in an individual affected with transitional cell carcinoma, but is unclear whether it was a germline or somatic occurrence. This report does not provide unequivocal conclusions about association of the variant with Polycystic Kidney and Hepatic Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Gene |
RCV000725680 | SCV001995498 | uncertain significance | not provided | 2022-03-10 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001086206 | SCV001463503 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-05-26 | no assertion criteria provided | clinical testing |