Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000558855 | SCV000636154 | pathogenic | Nephronophthisis | 2018-09-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NPHP3-related disease. However, this variant occurs with a pathogenic variant (c.2694-2_2694-1delAG) in NPHP3 in an individual with clinical features of nephronophthisis (Invitae). Family studies indicate that these two variants are on opposite chromosomes (in trans), which suggests that the c.1985+1G>A substitution may contribute to disease. For these reasons, this variant has been classified as Pathogenic. This sequence change affects a donor splice site in intron 13 of the NPHP3 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Fulgent Genetics, |
RCV002497109 | SCV002808680 | likely pathogenic | Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome | 2021-07-08 | criteria provided, single submitter | clinical testing |