ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.136G>C (p.Glu46Gln)

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Total submissions: 1
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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.

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