Submissions for variant NM_000256.3(MYBPC3):c.906-11C>T

gnomAD frequency: 0.00001  dbSNP: rs1296550753

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000598754	SCV000709821	uncertain significance	not provided	2018-01-26	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the MYBPC3 gene. The c.906-11 C>T variant has not been published as pathogenic or been reported as benign to our knowledge. The c.906-11 C>T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). Splice-site predictors are uninformative as to the effect on the natural splice acceptor site, and in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Color Diagnostics, LLC DBA Color Health	RCV003532183	SCV004358757	uncertain significance	Cardiomyopathy	2023-01-27	criteria provided, single submitter	clinical testing	This variant causes a C>T nucleotide substitution at the -11 position of intron 9 of the MYBPC3 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has been identified in 3/227140 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.