Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586006 | SCV000699851 | benign | not provided | 2016-06-12 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.1675C>T (p.Arg559Trp) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 221/123690 control chromosomes (including 5 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.0201716 (174/8626). This frequency is about 3 times greater than the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian. In a sufficiently large case-control study, this variant did not confer any increased risk for non-obstructive azoospermia, further supporting the benign outcome. Taking together, the variant is classified as Benign. |
Invitae | RCV001083536 | SCV001002827 | benign | Autosomal recessive polycystic kidney disease | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001083536 | SCV001320522 | benign | Autosomal recessive polycystic kidney disease | 2017-04-27 | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Natera, |
RCV001083536 | SCV002081070 | benign | Autosomal recessive polycystic kidney disease | 2017-05-11 | no assertion criteria provided | clinical testing |