Submissions for variant NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs)

dbSNP: rs730880712

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000223877	SCV000208410	pathogenic	not provided	2015-04-23	criteria provided, single submitter	clinical testing	Although the c.1577_1580dupCACT pathogenic variant in the MYBPC3 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Cysteine 528, changing it to a Threonine, and creating a premature stop codon at position 4 of the new reading frame, denoted p.Cys528ThrfsX4. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variant in the MYBPC3 gene have been reported in HGMD in association with HCM (Stenson et al., 2014).
Stanford Center for Inherited Cardiovascular Disease, Stanford University	RCV000223877	SCV000280217	likely pathogenic	not provided	2012-07-30	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
GenomeConnect, ClinGen	RCV000509093	SCV000607181	not provided	Hypertrophic cardiomyopathy		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.