ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1641del (p.Thr548fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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.

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