Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734775 | SCV000862944 | pathogenic | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000734775 | SCV000927974 | likely pathogenic | not provided | 2018-10-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001228010 | SCV001400391 | pathogenic | Nephronophthisis | 2022-11-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 598394). This premature translational stop signal has been observed in individual(s) with nephronophthisis (PMID: 23188109). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Thr136Argfs*13) in the NPHP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NPHP3 are known to be pathogenic (PMID: 18371931, 23559409). |
Prevention |
RCV003411684 | SCV004107842 | pathogenic | NPHP3-related condition | 2022-12-19 | criteria provided, single submitter | clinical testing | The NPHP3 c.406delA variant is predicted to result in a frameshift and premature protein termination (p.Thr136Argfs*13). This variant was reported in the homozygous state in an individual with infantile nephronophthisis (Halbritter et al 2012. PubMed ID: 23188109). This variant is reported in 0.0041% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-132438661-GT-G). Frameshift variants in NPHP3 are expected to be pathogenic. This variant is interpreted as pathogenic. |