ClinVar Miner

Submissions for variant NM_001077653.2(TBX20):c.457G>A (p.Val153Ile)

gnomAD frequency: 0.00011  dbSNP: rs776152314
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001596374 SCV001829618 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001596374 SCV002252545 uncertain significance not provided 2025-01-17 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 153 of the TBX20 protein (p.Val153Ile). This variant is present in population databases (rs776152314, 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: 1223434). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TBX20 protein function with a negative predictive value of 80%. 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 RCV002334632 SCV002638564 uncertain significance Cardiovascular phenotype 2025-01-09 criteria provided, single submitter clinical testing The c.457G>A (p.V153I) alteration is located in exon 3 (coding exon 3) of the TBX20 gene. This alteration results from a G to A substitution at nucleotide position 457, causing the valine (V) at amino acid position 153 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002495962 SCV002786271 uncertain significance Atrial septal defect 4 2021-10-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001596374 SCV005188495 uncertain significance not provided criteria provided, single submitter not provided

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