ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) (rs780449220)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172006 SCV000050980 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Color Health, Inc RCV000772175 SCV000905292 uncertain significance Cardiomyopathy 2018-10-11 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the Ig-like domain C8 of the MYBPC3 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 21/269384 chromosomes (21/18848 East Asian chromosomes, 0.11%) in the general population by the Genome Aggregation Database (gnomAD). Although the relatively high frequency of this variant in the general population suggests that it is unlikely to be disease-causing, available evidence is insufficient to rule out the pathogenicity of this variant conclusively.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000772175 SCV001333818 benign Cardiomyopathy 2018-01-26 criteria provided, single submitter clinical testing
Invitae RCV001419733 SCV001621994 likely benign Hypertrophic cardiomyopathy 2020-10-23 criteria provided, single submitter clinical testing

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