Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001065898 | SCV001230888 | uncertain significance | not provided | 2023-09-05 | 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 PITPNM3 protein function. ClinVar contains an entry for this variant (Variation ID: 859724). This variant has not been reported in the literature in individuals affected with PITPNM3-related conditions. This variant is present in population databases (rs759141007, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 682 of the PITPNM3 protein (p.Arg682Leu). |
| Ambry Genetics | RCV004030591 | SCV003555951 | uncertain significance | not specified | 2022-01-27 | criteria provided, single submitter | clinical testing | The c.2045G>T (p.R682L) alteration is located in exon 16 (coding exon 16) of the PITPNM3 gene. This alteration results from a G to T substitution at nucleotide position 2045, causing the arginine (R) at amino acid position 682 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004813687 | SCV005071656 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |