ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.848C>G (p.Thr283Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002727471 SCV003546029 uncertain significance Inborn genetic diseases 2023-03-07 criteria provided, single submitter clinical testing The p.T283S variant (also known as c.848C>G), located in coding exon 3 of the LTBP3 gene, results from a C to G substitution at nucleotide position 848. The threonine at codon 283 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003591985 SCV004344485 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2024-06-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 283 of the LTBP3 protein (p.Thr283Ser). 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: 2226186). 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.

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