Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001933761 | SCV002203933 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1292 of the LTBP3 protein (p.Arg1292His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1427542). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. |
Ambry Genetics | RCV004641806 | SCV005130011 | uncertain significance | Inborn genetic diseases | 2024-03-30 | criteria provided, single submitter | clinical testing | The c.3875G>A (p.R1292H) alteration is located in exon 28 (coding exon 28) of the LTBP3 gene. This alteration results from a G to A substitution at nucleotide position 3875, causing the arginine (R) at amino acid position 1292 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |