ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.425G>T (p.Gly142Val)

gnomAD frequency: 0.00006  dbSNP: rs56385445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805596 SCV000945556 uncertain significance Hypertrophic cardiomyopathy 1 2022-11-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYLK2 protein function. ClinVar contains an entry for this variant (Variation ID: 650441). This variant has not been reported in the literature in individuals affected with MYLK2-related conditions. This variant is present in population databases (rs56385445, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 142 of the MYLK2 protein (p.Gly142Val).
Klaassen Lab, Charite University Medicine Berlin RCV000853131 SCV000995843 uncertain significance Left ventricular noncompaction cardiomyopathy 2019-07-03 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798982 SCV002043647 benign Cardiomyopathy 2020-10-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489897 SCV004241266 likely benign not specified 2023-12-03 criteria provided, single submitter clinical testing

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