ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3674G>A (p.Ser1225Asn)

gnomAD frequency: 0.00001  dbSNP: rs141017996
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001893772 SCV002171766 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1225 of the LTBP3 protein (p.Ser1225Asn). This variant is present in population databases (rs141017996, gnomAD 0.002%). 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: 1399312). 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 tolerated. 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 RCV002458761 SCV002615147 uncertain significance Inborn genetic diseases 2021-10-07 criteria provided, single submitter clinical testing The p.S1225N variant (also known as c.3674G>A), located in coding exon 27 of the LTBP3 gene, results from a G to A substitution at nucleotide position 3674. The serine at codon 1225 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.