Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622909 | SCV000741143 | likely pathogenic | Inborn genetic diseases | 2016-01-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000689010 | SCV000816645 | pathogenic | Legius syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Thr102 amino acid residue in SPRED1. Other variant(s) that disrupt this residue have been observed in individuals with SPRED1-related conditions (PMID: 2275304, 21548021, 26635368), which suggests that this may be a clinically significant amino acid residue. Experimental studies have shown that this missense change affects SPRED1 function (PMID: 19920235, 21089071, 22751498, 31401120). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 520837). This missense change has been observed in individuals with Legius syndrome (PMID: 19920235; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 102 of the SPRED1 protein (p.Thr102Arg). |