ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu)

gnomAD frequency: 0.00036  dbSNP: rs146043349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525433 SCV000641067 likely benign Aortic aneurysm, familial thoracic 4 2024-01-03 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182232 SCV001347617 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-24 criteria provided, single submitter clinical testing
GeneDx RCV001575927 SCV001803018 likely benign not provided 2021-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182232 SCV002645189 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-04 criteria provided, single submitter clinical testing The p.D1757E variant (also known as c.5271C>A), located in coding exon 36 of the MYH11 gene, results from a C to A substitution at nucleotide position 5271. The aspartic acid at codon 1757 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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