ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp)

gnomAD frequency: 0.00002  dbSNP: rs769112519
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV002287505 SCV002577825 uncertain significance See cases 2021-12-10 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,BP1
Fulgent Genetics, Fulgent Genetics RCV002477894 SCV002778775 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 2021-10-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008967 SCV004824853 uncertain significance Cardiomyopathy 2023-10-27 criteria provided, single submitter clinical testing This missense variant replaces asparagine with aspartic acid at codon 1824 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 been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 33495596). This variant has been identified in 3/282702 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.
Clinical Genetics, Academic Medical Center RCV001700538 SCV001922471 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001700538 SCV001963444 uncertain significance not provided no assertion criteria provided clinical testing

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