ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.24C>G (p.Ala8=)

gnomAD frequency: 0.00229  dbSNP: rs78118111
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246015 SCV000319565 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-04-20 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.
Illumina Laboratory Services, Illumina RCV000246015 SCV000440355 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474087 SCV000560687 benign Aortic aneurysm, familial thoracic 7 2024-01-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000246015 SCV000900731 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-07-05 criteria provided, single submitter clinical testing
GeneDx RCV001552310 SCV001772977 likely benign not provided 2021-08-26 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001823721 SCV002073468 likely benign not specified 2022-01-17 criteria provided, single submitter clinical testing This synonymous variant has an entry in ClinVar (263976) NM_053025.4 (MYLK): c.24C>G (p.Ala8=) and has occurred in GnomAD with a total MAF of 0.0614% and highest MAF of 0.8496% in the African population. This position is not conserved. In silico splicing algorithm was unavailable, however it is not predicted to impact splicing due to its distance from the splice site. No functional studies were performed to confirm this prediction. The variant has not occurred in literature associated with disease. Considering the above evidence, this variant has been classified as Likely Benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001823721 SCV004029800 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001552310 SCV004563980 benign not provided 2023-09-22 criteria provided, single submitter clinical testing

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