ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)

gnomAD frequency: 0.00001  dbSNP: rs373539086
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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 RCV001890596 SCV002156288 uncertain significance DiGeorge syndrome 2021-07-29 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is present in population databases (rs373539086, ExAC 0.001%). This sequence change replaces glutamine with arginine at codon 238 of the TBX1 protein (p.Gln238Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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.
Fulgent Genetics, Fulgent Genetics RCV002506954 SCV002815819 uncertain significance Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 2022-03-09 criteria provided, single submitter clinical testing

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