ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)

dbSNP: rs730880852
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472959 SCV000546220 uncertain significance Hypertrophic cardiomyopathy 2021-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg249*) in the MYH7 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYH7-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002481417 SCV002803899 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-11-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532128 SCV004356969 uncertain significance Cardiomyopathy 2023-07-06 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 9 of the MYH7 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with left ventricular non-compaction (PMID: 28798025). This variant has been identified in 1/251458 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance 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.

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