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 sequence	2019-12-31	criteria provided, single submitter	clinical testing

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