ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) (rs368765949)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000206843 SCV000196741 likely pathogenic Hypertrophic cardiomyopathy 2014-06-01 criteria provided, single submitter research
GeneDx RCV000158241 SCV000208176 pathogenic not provided 2017-01-26 criteria provided, single submitter clinical testing The W1214X variant in the MYBPC3 gene has been reported in an Indian male patient with familial HCM who also harbored another variant in the MYH7 gene (Bashyam M et al., 2012). The variant was absent from 100 ethnically matched control individuals. W1214X is predicted to cause loss of normal protein function either by protein truncation or nonsense mediated mRNA decay. Other nonsense variants in the MYBPC3 gene have been reported in association with HCM. In summary, W1214X in the MYBPC3 gene is interpreted as a disease-causing variant.
Invitae RCV000206843 SCV000259243 pathogenic Hypertrophic cardiomyopathy 2018-12-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1214*) in the MYBPC3 gene. It is expected to result in an absent or disrupted protein product. A different variant (c.3641G>A) giving rise to the same protein effect observed here (p.Trp1214*) has been reported in several individuals affected with hypertrophic cardiomyopathy (PMID: 21959974, 24093860), indicating that this residue may be critical for protein function. ClinVar contains an entry for this variant (Variation ID: 31800536). Loss-of-function variants in MYBPC3 are known to be pathogenic (PMID: 19574547). For these reasons, this variant has been classified as Pathogenic.
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000201437 SCV000256182 likely pathogenic Familial hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing

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