ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.422C>A (p.Ser141Tyr)

dbSNP: rs1871581681
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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 RCV002036406 SCV002314357 uncertain significance Aortic valve disease 2 2021-04-29 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TBX5 protein function. This variant has not been reported in the literature in individuals with TBX5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 141 of the TBX5 protein (p.Ser141Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine.

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