ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3676G>A (p.Gly1226Ser)

gnomAD frequency: 0.00001  dbSNP: rs1445499882
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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 RCV001885537 SCV002113374 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-01-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1353486). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. 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 sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1226 of the LTBP3 protein (p.Gly1226Ser).
Ambry Genetics RCV004038961 SCV005038396 uncertain significance Inborn genetic diseases 2023-11-01 criteria provided, single submitter clinical testing The p.G1226S variant (also known as c.3676G>A), located in coding exon 27 of the LTBP3 gene, results from a G to A substitution at nucleotide position 3676. The glycine at codon 1226 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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