ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.1397C>T (p.Ala466Val) (rs753613632)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497785 SCV000589366 uncertain significance not provided 2016-08-19 criteria provided, single submitter clinical testing The A466V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant was not observed in approximately 2,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations; however, the average coverage depth of this position was relatively low at 4.0 reads. The variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001084246 SCV000751443 benign DiGeorge Syndrome 2019-12-31 criteria provided, single submitter clinical testing

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