ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys) (rs748516947)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182536 SCV000234884 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing The T1911K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The T1911K variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T1911K 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 across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Mutations in nearby residues have not been reported in association with TAAD or related disorder, indicating this region of the protein may tolerate change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.

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