Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Sydney Genome Diagnostics, |
RCV001328318 | SCV001449374 | likely pathogenic | Nephronophthisis | 2019-07-23 | no assertion criteria provided | clinical testing | This individual is also heterozygous for the c.2327del variant in the NPHP4 gene. This frameshifting variant is predicted to create a premature stop codon p.(Pro776Argfs*23) and may result in a null allele due to nonsense-mediated mRNA decay. The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. However, other truncating variants downstream of this amino acid have been described in the literature (OMIM *607215). This variant is considered to be likely pathogenic according to the ACMG guidelines (Evidence used PVS1, PM2). |