ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3132C>T (p.Ala1044=)

gnomAD frequency: 0.00007  dbSNP: rs58176285
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000863016 SCV001003605 likely benign Aortic aneurysm, familial thoracic 7 2023-09-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170121 SCV001332662 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-22 criteria provided, single submitter clinical testing
GeneDx RCV001560597 SCV001783040 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170121 SCV002608992 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003938232 SCV004757908 likely benign MYLK-related condition 2022-12-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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