ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3584C>T (p.Ser1195Phe)

gnomAD frequency: 0.00003  dbSNP: rs751218306
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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 RCV002033266 SCV002114806 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2021-10-08 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 C15"). This variant has not been reported in the literature in individuals affected with LTBP3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 1195 of the LTBP3 protein (p.Ser1195Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.
Ambry Genetics RCV002460167 SCV002618151 uncertain significance Inborn genetic diseases 2022-03-12 criteria provided, single submitter clinical testing The p.S1195F variant (also known as c.3584C>T), located in coding exon 26 of the LTBP3 gene, results from a C to T substitution at nucleotide position 3584. The serine at codon 1195 is replaced by phenylalanine, an amino acid with highly dissimilar 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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