Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000730746 | SCV000858509 | uncertain significance | not provided | 2017-12-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001418303 | SCV001620528 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003420301 | SCV004117968 | uncertain significance | PKHD1-related disorder | 2023-09-13 | criteria provided, single submitter | clinical testing | The PKHD1 c.3953A>T variant is predicted to result in the amino acid substitution p.His1318Leu. This variant has been reported in a compound heterozygous or heterozygous state in multiple individuals with autosomal dominant polycystic kidney disease (Yu et al 2022. PubMed ID: 35778421). This variant is reported in 0.13% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51890655-T-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Gene |
RCV000730746 | SCV004169754 | uncertain significance | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | Identified with a second PKHD1 variant in a family with polycystic kidney disease, however, detailed clinical and segregation information were not provided (Yu et al., 2022); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 35778421) |