Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002929089 | SCV003277968 | uncertain significance | Familial aplasia of the vermis | 2022-11-08 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt INPP5E protein function. This variant has not been reported in the literature in individuals affected with INPP5E-related conditions. This variant is present in population databases (rs187724945, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 102 of the INPP5E protein (p.Asp102Asn). |
| Fulgent Genetics, |
RCV005045100 | SCV005680031 | uncertain significance | MORM syndrome; Joubert syndrome 1 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004757557 | SCV005365392 | uncertain significance | INPP5E-related disorder | 2024-05-14 | no assertion criteria provided | clinical testing | The INPP5E c.304G>A variant is predicted to result in the amino acid substitution p.Asp102Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |