Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590265 | SCV000699859 | likely pathogenic | Autosomal recessive polycystic kidney disease | 2017-01-23 | criteria provided, single submitter | clinical testing | Variant summary: The PKHD1 c.3158_3159delGA (p.Gly1053Valfs) 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 likely pathogenic/pathogenic by our laboratory (e.g. c.3761_3762delinsG (p.Ala1254fs), c.9319C>T (p.Arg3107X), and c.9689delA (p.Asp3230fs)). The variant of interest was not observed in controls, nor has it been, to our knowledge, reported in affected individuals via publications and/or databases/clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as "Likely Pathogenic." |