ClinVar Miner

Submissions for variant NM_005994.4(TBX2):c.1606G>C (p.Gly536Arg)

gnomAD frequency: 0.00030  dbSNP: rs760926920
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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 RCV001904092 SCV002126082 uncertain significance not provided 2022-10-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 536 of the TBX2 protein (p.Gly536Arg). This variant is present in population databases (rs760926920, gnomAD 0.5%). This variant has not been reported in the literature in individuals affected with TBX2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1358161). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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 RCV004039642 SCV003682283 uncertain significance not specified 2022-02-17 criteria provided, single submitter clinical testing The c.1606G>C (p.G536R) alteration is located in exon 6 (coding exon 6) of the TBX2 gene. This alteration results from a G to C substitution at nucleotide position 1606, causing the glycine (G) at amino acid position 536 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001904092 SCV005192993 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003956416 SCV004772509 benign TBX2-related disorder 2019-07-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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