Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002541573 | SCV003538065 | uncertain significance | Inborn genetic diseases | 2022-12-06 | criteria provided, single submitter | clinical testing | The c.563T>C (p.M188T) alteration is located in exon 5 (coding exon 5) of the SPRED1 gene. This alteration results from a T to C substitution at nucleotide position 563, causing the methionine (M) at amino acid position 188 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV003770354 | SCV004631454 | uncertain significance | Legius syndrome | 2023-05-19 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 981596). This variant has not been reported in the literature in individuals affected with SPRED1-related conditions. This variant is present in population databases (rs370735097, gnomAD 0.004%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 188 of the SPRED1 protein (p.Met188Thr). 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 SPRED1 protein function. 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. |
Service de Génétique Moléculaire, |
RCV001261132 | SCV001438539 | uncertain significance | Costello syndrome | no assertion criteria provided | clinical testing |