Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001059713 | SCV001224352 | uncertain significance | Leber congenital amaurosis 3 | 2022-11-01 | 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 expected to disrupt SPATA7 protein function. ClinVar contains an entry for this variant (Variation ID: 854626). This variant has not been reported in the literature in individuals affected with SPATA7-related conditions. This variant is present in population databases (rs771350966, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 261 of the SPATA7 protein (p.Pro261Ser). |
| Ambry Genetics | RCV003372966 | SCV004073462 | uncertain significance | Inborn genetic diseases | 2023-07-25 | criteria provided, single submitter | clinical testing | The c.781C>T (p.P261S) alteration is located in exon 6 (coding exon 6) of the SPATA7 gene. This alteration results from a C to T substitution at nucleotide position 781, causing the proline (P) at amino acid position 261 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |