ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3854-14T>G

gnomAD frequency: 0.00004  dbSNP: rs371212384
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497784 SCV000589904 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYH7 gene. The c.3854-14 T>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.3854-14 T>G variant is observed in 3/10,406 (0.03%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.3854-14 T>G may damage or destroy the natural acceptor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Additionally, this substitution occurs at a position that is not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Color Diagnostics, LLC DBA Color Health RCV001188966 SCV001356157 uncertain significance Cardiomyopathy 2023-01-19 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -14 position of intron 28 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 been identified in 6/282858 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060087 SCV002401987 likely benign Hypertrophic cardiomyopathy 2024-11-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001188966 SCV004815174 uncertain significance Cardiomyopathy 2023-04-27 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -14 position of intron 28 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 been identified in 6/282858 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.

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