ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)

gnomAD frequency: 0.00005  dbSNP: rs541198585
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053392 SCV001217650 uncertain significance DiGeorge syndrome 2023-04-30 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. 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. ClinVar contains an entry for this variant (Variation ID: 560627). This missense change has been observed in at least one individual who was not affected with TBX1-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 483 of the TBX1 protein (p.Gly483Arg).
Ambry Genetics RCV002388188 SCV002700277 uncertain significance Cardiovascular phenotype 2021-10-11 criteria provided, single submitter clinical testing The p.G483R variant (also known as c.1447G>A), located in coding exon 8 of the TBX1 gene, results from a G to A substitution at nucleotide position 1447. The glycine at codon 483 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678753 SCV000804929 uncertain significance Hypoplastic left heart syndrome 2017-01-20 no assertion criteria provided clinical testing

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