ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.836G>A (p.Arg279Gln) (rs115178276)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244075 SCV000319891 likely benign Cardiovascular phenotype 2019-03-12 criteria provided, single submitter clinical testing Other strong data supporting benign classification
GeneDx RCV000489388 SCV000577126 uncertain significance not provided 2017-04-10 criteria provided, single submitter clinical testing The R279Q variant has been reported in a patient with limb anomalies consistent with Holt-Oram syndrome, but the authors were unsure whether R279Q contributed to the individual's phenotype (Debeer et al., 2007). The R279Q variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R279Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001083368 SCV001003038 likely benign Aortic valve disease 2 2019-12-31 criteria provided, single submitter clinical testing

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