ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3514G>A (p.Ala1172Thr)

gnomAD frequency: 0.00001  dbSNP: rs769061467
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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 RCV001472367 SCV001676497 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2024-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454230 SCV002616384 uncertain significance Inborn genetic diseases 2021-07-22 criteria provided, single submitter clinical testing The p.A1172T variant (also known as c.3514G>A), located in coding exon 25 of the LTBP3 gene, results from a G to A substitution at nucleotide position 3514. The alanine at codon 1172 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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