ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3853+1G>A

gnomAD frequency: 0.00002  dbSNP: rs202031879
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208113 SCV000264103 uncertain significance Sudden cardiac death 2015-10-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183230 SCV001348908 uncertain significance Cardiomyopathy 2019-12-18 criteria provided, single submitter clinical testing This variant causes a G>A nucleotide substitution at the canonical +1 position of intron 28 splice donor site of the MYH7 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/251428 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical significance of loss-of-function MYH7 truncation variants in autosomal dominant cardiovascular disorders is not clearly established. 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.
All of Us Research Program, National Institutes of Health RCV003997686 SCV004834390 uncertain significance Primary dilated cardiomyopathy 2024-01-03 criteria provided, single submitter clinical testing

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