ClinVar Miner

Submissions for variant NM_002667.5(PLN):c.4G>T (p.Glu2Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005179708 SCV005815522 pathogenic Dilated cardiomyopathy 1P 2024-05-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2*) in the PLN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the PLN protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with dilated cardiomyopathy (PMID: 30638982). This variant disrupts a region of the PLN protein in which other variant(s) (p.Leu39*) have been determined to be pathogenic (PMID: 12639993, 17655857, 21167350, 25611685, 26535225, 27532257). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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