ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5368A>G (p.Ile1790Val)

dbSNP: rs2138638553
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003533015 SCV004359511 uncertain significance Cardiomyopathy 2023-04-07 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1790 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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.
All of Us Research Program, National Institutes of Health RCV003533015 SCV004825329 uncertain significance Cardiomyopathy 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1790 of the MYH7 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). 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.
Clinical Genetics, Academic Medical Center RCV001699938 SCV001924344 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699938 SCV001926337 uncertain significance not provided no assertion criteria provided clinical testing

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