ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile)

dbSNP: rs2145832375
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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 RCV002029764 SCV002115715 uncertain significance DiGeorge syndrome 2021-04-16 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 162 of the TBX1 protein (p.Phe162Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TBX1-related conditions. This variant is not present in population databases (ExAC no frequency).

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