ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr)

dbSNP: rs1936813859
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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 RCV001326134 SCV001517148 uncertain significance DiGeorge syndrome 2021-07-09 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with TBX1-related conditions. This sequence change replaces proline with threonine at codon 300 of the TBX1 protein (p.Pro300Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency).

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