Submissions for variant NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter)

dbSNP: rs779650200

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000413654	SCV000491647	pathogenic	not provided	2016-11-01	criteria provided, single submitter	clinical testing	The W1086X variant in the MYBPC3 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. However, a different nucleotide change resulting in the same nonsense variant (c.3258G>A, p.W1086X) has previously been reported in an individual diagnosed with HCM (Murphy et al., 2016). W1086X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Multiple other downstream nonsense variants in the MYBPC3 gene have been reported in the Human Gene Mutation Database in association with HCM (Stenson et al., 2014). Furthermore, the W1086X pathogenic variant was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, W1086X in the MYBPC3 gene is interpreted as a pathogenic variant.
Blueprint Genetics	RCV000413654	SCV000927789	pathogenic	not provided	2018-07-13	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486824	SCV004239376	pathogenic	Cardiomyopathy	2023-06-16	criteria provided, single submitter	clinical testing
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute	RCV001254771	SCV001430873	pathogenic	Hypertrophic cardiomyopathy	2020-04-06	no assertion criteria provided	research	This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband identified with this variant. For further information please feel free to contact us.