ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.243C>A (p.Ser81Arg) (rs1478778776)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686904 SCV000814445 uncertain significance DiGeorge Syndrome 2018-07-04 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 81 of the TBX1 protein (p.Ser81Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TBX1-related disease. 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: "not available"; 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.

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