Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV000786399 | SCV001447140 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360903 | SCV002658582 | uncertain significance | Cardiovascular phenotype | 2022-05-05 | criteria provided, single submitter | clinical testing | The c.1222dupC variant, located in coding exon 2 of the RBM20 gene, results from a duplication of C at nucleotide position 1222, causing a translational frameshift with a predicted alternate stop codon (p.L408Pfs*8). This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of RBM20 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002535736 | SCV003472661 | uncertain significance | Dilated cardiomyopathy 1DD | 2022-10-25 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 635249). This variant has not been reported in the literature in individuals affected with RBM20-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu408Profs*8) in the RBM20 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 RBM20 cause disease. |
Stanford Center for Inherited Cardiovascular Disease, |
RCV000786399 | SCV000925211 | uncertain significance | not provided | 2016-02-26 | no assertion criteria provided | provider interpretation |