Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV003315126 | SCV004014719 | pathogenic | Dilated cardiomyopathy 1A | 2023-01-27 | criteria provided, single submitter | clinical testing | The LMNA c.1641del (p.Thr548LeufsTer150) variant results in the deletion of a nucleotide at position c.1641, causing a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a heterozygous state and segregated with disease. Based on the available evidence, the c.1641del (p.Thr548LeufsTer150) variant is classified as pathogenic for dilated cardiomyoppathy. |