ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys)

dbSNP: rs913431428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300297 SCV001489434 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2022-06-20 criteria provided, single submitter clinical testing 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 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1003708). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 358 of the LTBP3 protein (p.Glu358Lys).
Ambry Genetics RCV002418906 SCV002719084 uncertain significance Inborn genetic diseases 2021-09-09 criteria provided, single submitter clinical testing The p.E358K variant (also known as c.1072G>A), located in coding exon 6 of the LTBP3 gene, results from a G to A substitution at nucleotide position 1072. The glutamic acid at codon 358 is replaced by lysine, 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.
GenomeConnect, ClinGen RCV001824947 SCV002075268 not provided Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-29-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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