Submissions for variant NM_000256.3(MYBPC3):c.2792dup (p.Lys932fs)

dbSNP: rs730880716

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000223746	SCV000208415	pathogenic	not provided	2018-01-04	criteria provided, single submitter	clinical testing	Although the c.2792dupT pathogenic variant in the MYBPC3 gene has not been reported to ourknowledge, this variant causes a shift in reading frame starting at codon Lysine 932, changing it to aGlutamic adic, and creating a premature stop codon at position 119 of the new reading frame, denotedp.Lys932GlufsX119. This pathogenic variant is expected to result in either an abnormal, truncatedprotein product or loss of protein from this allele through nonsense-mediated mRNA decay. Otherframeshift variants in the MYBPC3 gene have been reported in HGMD in association with HCM(Stenson et al., 2014). Furthermore, the c.2792dupT variant was not observed in approximately 6,100individuals 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, c.2792dupT in the MYBPC3 gene is interpreted as a pathogenic variant.
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000223746	SCV000280244	likely pathogenic	not provided	2013-07-10	no assertion criteria provided	clinical testing	Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease