Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004278359 | SCV003904529 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-03-01 | criteria provided, single submitter | clinical testing | The c.136G>C (p.E46Q) alteration is located in exon 2 (coding exon 1) of the MYH11 gene. This alteration results from a G to C substitution at nucleotide position 136, causing the glutamic acid (E) at amino acid position 46 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |