Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001878499 | SCV002127252 | uncertain significance | not provided | 2022-07-05 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1626 of the LTBP2 protein (p.Pro1626Leu). This variant is present in population databases (rs141230498, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LTBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1357924). 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. 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, |
RCV002503395 | SCV002816855 | uncertain significance | Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma | 2021-10-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003247061 | SCV003951373 | uncertain significance | Inborn genetic diseases | 2023-04-25 | criteria provided, single submitter | clinical testing | The c.4877C>T (p.P1626L) alteration is located in exon 33 (coding exon 33) of the LTBP2 gene. This alteration results from a C to T substitution at nucleotide position 4877, causing the proline (P) at amino acid position 1626 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |