ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)

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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 RCV002397023 SCV002698066 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The p.Y492C variant (also known as c.1475A>G), located in coding exon 8 of the TBX1 gene, results from an A to G substitution at nucleotide position 1475. The tyrosine at codon 492 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095212 SCV003474857 uncertain significance DiGeorge syndrome 2023-01-08 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1773449). 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 tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 492 of the TBX1 protein (p.Tyr492Cys).

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