ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)

dbSNP: rs1572358821
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825597 SCV000966939 likely pathogenic Primary dilated cardiomyopathy 2018-02-22 criteria provided, single submitter clinical testing The p.Leu197ThrfsX2 variant in LMNA has not been previously reported in individu als with dilated cardiomyopathy (DCM) or other LMNA-associated diseases and was absent from large population studies, though the ability of these studies to acc urately detect indels may be limited. This variant is a deletion of 2 amino acid s at positions 197 and 198 and an insertion of a threonine and a premature stop codon at these positions. This alteration is then predicted to lead to a truncat ed or absent protein. Heterozygous loss of LMNA function is strongly associated with DCM with or without conduction system disease, and/or skeletal myopathy. In summary, although additional studies are required to fully establish its clinic al significance, the p.Leu197ThrfsX2 variant is likely pathogenic. ACMG/AMP Crit eria applied (Richards 2015): PVS1, PM2.

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