Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001239214 | SCV001412069 | pathogenic | Familial aplasia of the vermis | 2024-10-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn159*) in the INPP5E gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in INPP5E are known to be pathogenic (PMID: 19668216, 23034536, 23386033, 28125082). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. ClinVar contains an entry for this variant (Variation ID: 964895). For these reasons, this variant has been classified as Pathogenic. |
| Ocular Genomics Institute, |
RCV001376431 | SCV001573569 | likely pathogenic | Rod-cone dystrophy | 2021-04-08 | criteria provided, single submitter | research | The INPP5E c.473dup variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic. |
| Fulgent Genetics, |
RCV005050304 | SCV005680022 | likely pathogenic | MORM syndrome; Joubert syndrome 1 | 2024-01-28 | criteria provided, single submitter | clinical testing |