ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4308G>A (p.Glu1436=)

gnomAD frequency: 0.00001  dbSNP: rs1442217314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680568 SCV000807982 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV003117486 SCV003793029 likely benign Aortic aneurysm, familial thoracic 7 2023-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303102 SCV004001634 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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