Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001066240 | SCV001231246 | uncertain significance | not provided | 2024-12-12 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 679 of the PITPNM3 protein (p.Ser679Phe). This variant is present in population databases (rs146074870, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PITPNM3-related conditions. ClinVar contains an entry for this variant (Variation ID: 860004). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PITPNM3 protein function with a negative predictive value of 80%. 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. |
| Fulgent Genetics, |
RCV002482099 | SCV002792046 | uncertain significance | Cone-rod dystrophy 5 | 2021-10-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004649447 | SCV005153880 | uncertain significance | not specified | 2024-03-25 | criteria provided, single submitter | clinical testing | The c.2036C>T (p.S679F) alteration is located in exon 16 (coding exon 16) of the PITPNM3 gene. This alteration results from a C to T substitution at nucleotide position 2036, causing the serine (S) at amino acid position 679 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |