Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001920164 | SCV002161508 | uncertain significance | Brachyolmia-amelogenesis imperfecta syndrome | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 972 of the LTBP3 protein (p.Pro972Ser). This variant is present in population databases (rs148248053, gnomAD 0.02%). 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: 1397256). 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 | RCV002440992 | SCV002750982 | uncertain significance | Inborn genetic diseases | 2023-12-13 | criteria provided, single submitter | clinical testing | The c.2914C>T (p.P972S) alteration is located in exon 21 (coding exon 21) of the LTBP3 gene. This alteration results from a C to T substitution at nucleotide position 2914, causing the proline (P) at amino acid position 972 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |