Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734724 | SCV000862888 | uncertain significance | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001033975 | SCV001197298 | likely benign | Autosomal recessive polycystic kidney disease | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243285 | SCV003938704 | uncertain significance | Inborn genetic diseases | 2023-04-05 | criteria provided, single submitter | clinical testing | The c.10531G>A (p.G3511R) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 10531, causing the glycine (G) at amino acid position 3511 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Gene |
RCV000734724 | SCV004039697 | uncertain significance | not provided | 2023-09-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Prevention |
RCV003424325 | SCV004117289 | uncertain significance | PKHD1-related disorder | 2023-01-19 | criteria provided, single submitter | clinical testing | The PKHD1 c.10531G>A variant is predicted to result in the amino acid substitution p.Gly3511Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.13% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-51524393-C-T). 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. |
Natera, |
RCV001033975 | SCV001453258 | uncertain significance | Autosomal recessive polycystic kidney disease | 2018-06-19 | no assertion criteria provided | clinical testing |