ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) (rs1050298581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788983 SCV000928291 uncertain significance not provided 2019-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000413701 SCV000491498 uncertain significance not specified 2016-06-13 criteria provided, single submitter clinical testing The S766N variant in the MYH11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S766N 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 S766N 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 conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S766N as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000709853 SCV000840185 not provided Familial thoracic aortic aneurysm no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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