ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5158-12C>A

dbSNP: rs1020453843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188592 SCV001355665 uncertain significance Cardiomyopathy 2023-10-26 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -12 position of intron 35 of the MYH7 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH7-related disorders in the literature. This variant has not been identified 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003748331 SCV004522622 likely benign Hypertrophic cardiomyopathy 2023-01-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001188592 SCV004838164 uncertain significance Cardiomyopathy 2023-11-20 criteria provided, single submitter clinical testing This variant causes a C to A nucleotide substitution at the -12 position of intron 35 of the MYH7 gene. Splice prediction tools are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH7-related disorders in the literature. This variant has not been identified 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.

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