ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1030G>A (p.Glu344Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004275873 SCV003906026 uncertain significance Cardiovascular phenotype 2023-02-27 criteria provided, single submitter clinical testing The c.1003G>A (p.E335K) alteration is located in exon 8 (coding exon 7) of the TBX1 gene. This alteration results from a G to A substitution at nucleotide position 1003, causing the glutamic acid (E) at amino acid position 335 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779722 SCV004680667 uncertain significance DiGeorge syndrome 2023-06-15 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 TBX1 protein function. ClinVar contains an entry for this variant (Variation ID: 2489293). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 335 of the TBX1 protein (p.Glu335Lys).

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