ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.751G>A (p.Glu251Lys)

gnomAD frequency: 0.00013  dbSNP: rs752311785
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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 RCV000692839 SCV000820683 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 251 of the LTBP3 protein (p.Glu251Lys). This variant is present in population databases (rs752311785, gnomAD 0.02%). 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: 571639). 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.
Ambry Genetics RCV002388243 SCV002671942 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.751G>A (p.E251K) alteration is located in exon 3 (coding exon 3) of the LTBP3 gene. This alteration results from a G to A substitution at nucleotide position 751, causing the glutamic acid (E) at amino acid position 251 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003403607 SCV004136925 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing

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