ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1407996016
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001309123 SCV001498609 uncertain significance DiGeorge syndrome 2022-10-13 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 348 of the TBX1 protein (p.Asp348Tyr). 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: 1011340). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002402868 SCV002708257 uncertain significance Cardiovascular phenotype 2023-12-30 criteria provided, single submitter clinical testing The c.1042G>T (p.D348Y) alteration is located in exon 9 (coding exon 8) of the TBX1 gene. This alteration results from a G to T substitution at nucleotide position 1042, causing the aspartic acid (D) at amino acid position 348 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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