Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000558855 | SCV000636154 | pathogenic | Nephronophthisis | 2018-09-15 | criteria provided, single submitter | clinical testing | 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. 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. |
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 |