ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.1165C>T (p.Pro389Ser)

dbSNP: rs1187747905
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340425 SCV001534234 uncertain significance Aortic valve disease 2 2020-06-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TBX5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 389 of the TBX5 protein (p.Pro389Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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