ClinVar Miner

Submissions for variant NM_000192.3(TBX5):c.1234G>A (p.Val412Ile) (rs114124210)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588683 SCV000695948 benign not provided 2017-03-27 criteria provided, single submitter clinical testing Variant summary: The c.1234G>A (p.Val412Ile) in TBX5 gene is a missense change that involves a conserved nucleotide and 2/4 in silico tools predict deleterious outcome. The variant is located outside of any known functional domain and no functional studies confirming deleterious effect of this change have been reported at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 0.0009702 (117/ 120590 chrs tested), predominantly in individuals of African descent (0.01025; 105/ 120590 chrs tested, including 2 homozygotes. The observed frequency exceed the maximum expected allele frequency for a pathogenic variant of 0.0000013. The variant is present in a control population dataset of gnomAD at a frequency of 0.0009577 (265/276692 chrs), mainly in individuals of African origin: 0.009912 (238/24012 chrs, including 2 homozygotes). This data suggest that the variant of interest may be an ethnic-specific functional polymorphism. The variant has not, to our knowledge, been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. Taking together, the variant was classified as Benign.
GeneDx RCV000615903 SCV000715441 benign not specified 2017-06-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000619805 SCV000735404 likely benign Cardiovascular phenotype 2018-12-19 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Invitae RCV001085662 SCV001003110 benign Aortic valve disease 2 2019-12-31 criteria provided, single submitter clinical testing

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