ClinVar Miner

Submissions for variant NM_000257.2(MYH7):c.1888+1G>A (rs113186231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics, RCV000157367 SCV000207105 likely pathogenic Primary dilated cardiomyopathy 2014-07-04 no assertion criteria provided clinical testing
GeneDx RCV000505763 SCV000208828 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH7 gene. The c.1888+1 G>A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1888+1 G>A variant destroys the canonical splice donor site in intron 16 and is predicted to cause abnormal gene splicing. However, although other splice site variants in the MYH7 gene have been reported in the Human Gene Mutation Database in association with cardiomyopathy (Stenson et al., 2014), loss-of-function is not a recognized mechanism of disease in the MYH7 gene.

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