ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.28A>G (p.Met10Val)

dbSNP: rs1936578247
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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 RCV001319556 SCV001510304 uncertain significance DiGeorge syndrome 2020-07-12 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 10 of the TBX1 protein (p.Met10Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBX1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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