ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val)

dbSNP: rs751740430
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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 RCV001373582 SCV001570305 uncertain significance DiGeorge syndrome 2023-02-08 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1063717). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is present in population databases (rs751740430, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 441 of the TBX1 protein (p.Leu441Val).

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