ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3706A>G (p.Met1236Val)

gnomAD frequency: 0.00092  dbSNP: rs113124819
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253600 SCV000315290 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081723 SCV000770580 likely benign Aortic aneurysm, familial thoracic 7 2025-01-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770620 SCV000902071 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000828385 SCV000970071 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000828385 SCV001471880 likely benign not provided 2020-03-18 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000253600 SCV002073457 likely benign not specified 2022-01-14 criteria provided, single submitter clinical testing This missense variant represents an amino acid change of methionine with valine in codon 1236 of the MYLK gene; this codon is also within the splice region at the start of exon 22. This variant occurs in gnomAD with a total MAF of 0.0260% and highest MAF of 0.3790% in the African population, which is inconsistent with disease frequency. This position is not conserved. In silico functional models PolyPhen and SIFT predict this variant to be benign/tolerated; similarly, in silico splicing algorithms do not predict an impact to the splice site (MaxEntScan: 0.587). However, experimental functional or protein studies have not been performed to confirm these predictions. This variant is not present in the literature in association with disease. Considering this variant occurs relatively frequently and is not predicted to impact the protein or splicing, it is considered Likely Benign.
Ambry Genetics RCV000770620 SCV002623329 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-02 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000253600 SCV004029785 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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