ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His)

gnomAD frequency: 0.00002  dbSNP: rs746250147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248155 SCV001421624 uncertain significance DiGeorge syndrome 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 479 of the TBX1 protein (p.Tyr479His). This variant is present in population databases (rs746250147, gnomAD 0.02%). 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: 972183). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002393661 SCV002702849 uncertain significance Cardiovascular phenotype 2024-11-14 criteria provided, single submitter clinical testing The c.1435T>C (p.Y479H) alteration is located in exon 9 (coding exon 8) of the TBX1 gene. This alteration results from a T to C substitution at nucleotide position 1435, causing the tyrosine (Y) at amino acid position 479 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV004998772 SCV005620655 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945946 SCV004761683 uncertain significance TBX1-related disorder 2023-11-20 no assertion criteria provided clinical testing The TBX1 c.1435T>C variant is predicted to result in the amino acid substitution p.Tyr479His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.021% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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