ClinVar Miner

Submissions for variant NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser)

gnomAD frequency: 0.00006  dbSNP: rs147393830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Genomics Program, Sidra Medicine RCV001293137 SCV001434127 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Invitae RCV001879971 SCV002308347 uncertain significance not provided 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 4 of the TBX20 protein (p.Thr4Ser). This variant is present in population databases (rs147393830, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TBX20-related conditions. ClinVar contains an entry for this variant (Variation ID: 978742). 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 tolerated. 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 RCV002430062 SCV002740413 uncertain significance Cardiovascular phenotype 2024-04-28 criteria provided, single submitter clinical testing The p.T4S variant (also known as c.10A>T), located in coding exon 1 of the TBX20 gene, results from an A to T substitution at nucleotide position 10. The threonine at codon 4 is replaced by serine, an amino acid with similar properties. This variant has been detected in individuals with and without congenital heart disease from an exome sequencing cohort (Li AH et al. Genome Med. 2017 10;9(1):95). This amino acid position is highly conserved in available vertebrate species. 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.

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