ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.965A>G (p.His322Arg)

gnomAD frequency: 0.00002  dbSNP: rs759009256
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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 RCV002004889 SCV002235260 uncertain significance Aortic valve disease 2 2021-07-04 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 not expected to disrupt TBX5 protein function. This variant has not been reported in the literature in individuals affected with TBX5-related conditions. This variant is present in population databases (rs759009256, ExAC 0.004%). This sequence change replaces histidine with arginine at codon 322 of the TBX5 protein (p.His322Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine.

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