ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3281C>T (p.Pro1094Leu)

gnomAD frequency: 0.00017  dbSNP: rs773279346
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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 RCV001242522 SCV001415616 uncertain significance Brachyolmia-amelogenesis imperfecta syndrome 2023-10-18 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 1094 of the LTBP3 protein (p.Pro1094Leu). This variant is present in population databases (rs773279346, gnomAD 0.04%). 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: 967568). 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 tolerated. 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 RCV002564032 SCV003655754 uncertain significance Inborn genetic diseases 2021-09-28 criteria provided, single submitter clinical testing The c.3281C>T (p.P1094L) alteration is located in exon 24 (coding exon 24) of the LTBP3 gene. This alteration results from a C to T substitution at nucleotide position 3281, causing the proline (P) at amino acid position 1094 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692307 SCV005191345 uncertain significance not provided criteria provided, single submitter not provided

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