ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg)

gnomAD frequency: 0.00002  dbSNP: rs756769832
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223075 SCV001395208 uncertain significance DiGeorge syndrome 2024-08-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 494 of the TBX1 protein (p.Pro494Arg). This variant is present in population databases (rs756769832, gnomAD 0.01%). 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: 951216). 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 RCV003163735 SCV003882794 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.P494R variant (also known as c.1481C>G), located in coding exon 8 of the TBX1 gene, results from a C to G substitution at nucleotide position 1481. The proline at codon 494 is replaced by arginine, an amino acid with 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.
PreventionGenetics, part of Exact Sciences RCV003393895 SCV004120362 uncertain significance TBX1-related disorder 2023-03-29 criteria provided, single submitter clinical testing The TBX1 c.1481C>G variant is predicted to result in the amino acid substitution p.Pro494Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-19754383-C-G). 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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