Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588451 | SCV000699855 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-02-03 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.2180dupA (p.Asn727Lysfs) variant results in a premature termination codon, predicted to cause a truncated or absent PKHD1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3761_3762delinsG, p.Ala1254fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121276 control chromosomes and has been reported in at least one affected individual in the literature. Taken together, this variant is classified as likely pathogenic. |
Invitae | RCV000588451 | SCV002234424 | pathogenic | Autosomal recessive polycystic kidney disease | 2023-08-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn727Lysfs*39) in the PKHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKHD1 are known to be pathogenic (PMID: 19940839). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with polycystic kidney disease (PMID: 15805161). ClinVar contains an entry for this variant (Variation ID: 496517). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000588451 | SCV001132269 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2015-10-22 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000588451 | SCV002081042 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2021-03-22 | no assertion criteria provided | clinical testing |