ClinVar Miner

Submissions for variant NM_001134363.3(RBM20):c.1222dup (p.Leu408fs)

dbSNP: rs1564844428
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 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, Stanford University RCV000786399 SCV000925211 uncertain significance not provided 2016-02-26 no assertion criteria provided provider interpretation

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