ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.641C>T (p.Pro214Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002972436 SCV003291925 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2022-04-28 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 214 of the LTBP3 protein (p.Pro214Leu). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003170784 SCV003910281 uncertain significance Inborn genetic diseases 2022-11-19 criteria provided, single submitter clinical testing The p.P214L variant (also known as c.641C>T), located in coding exon 2 of the LTBP3 gene, results from a C to T substitution at nucleotide position 641. The proline at codon 214 is replaced by leucine, 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.

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