ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.956G>C (p.Gly319Ala)

gnomAD frequency: 0.00001  dbSNP: rs747565599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665439 SCV001872896 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002539611 SCV003445327 uncertain significance DiGeorge syndrome 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 310 of the TBX1 protein (p.Gly310Ala). This variant is present in population databases (rs747565599, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1254514). 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 TBX1 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004039559 SCV003947938 uncertain significance Cardiovascular phenotype 2023-05-22 criteria provided, single submitter clinical testing The c.929G>C (p.G310A) alteration is located in exon 8 (coding exon 7) of the TBX1 gene. This alteration results from a G to C substitution at nucleotide position 929, causing the glycine (G) at amino acid position 310 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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