Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036392 | SCV000060047 | uncertain significance | not specified | 2011-12-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001036752 | SCV001200132 | uncertain significance | Hypertrophic cardiomyopathy 10 | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 11 of the MYL2 protein (p.Gly11Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 43466). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Color Diagnostics, |
RCV001185545 | SCV001351791 | uncertain significance | Cardiomyopathy | 2023-03-15 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with arginine at codon 11 of the MYL2 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 dilated cardiomyopathy (PMID: 27532257). This variant has been identified in 1/251402 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. |
All of Us Research Program, |
RCV003996223 | SCV004845878 | uncertain significance | Hypertrophic cardiomyopathy | 2023-08-08 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with arginine at codon 11 of the MYL2 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 dilated cardiomyopathy (PMID: 27532257). This variant has been identified in 1/251402 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 Molecular Genetics Laboratory, |
RCV000678724 | SCV000804896 | uncertain significance | Primary dilated cardiomyopathy | 2016-09-22 | no assertion criteria provided | clinical testing |