ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.309_310delinsAC (p.Met104Leu)

dbSNP: rs2136418134
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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 RCV001866371 SCV002123543 uncertain significance Aortic valve disease 2 2021-06-03 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with TBX5-related conditions. This sequence change replaces methionine with leucine at codon 104 of the TBX5 protein (p.Met104Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine.

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