ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) (rs57077886)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000057387 SCV000293391 likely pathogenic not provided 2016-01-27 criteria provided, single submitter clinical testing A T10I variant that is likely pathogenic was identified in the LMNA gene. It has been reported in one patient with Seip syndrome (Csoka et al., 2004) and as a de novo variant in one patient with atypical lipodystrophy (Mory et al., 2008). The T10I variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T10I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. Functional studies show that a cell line with the T10I likely pathogenic variant from a patient with Seip syndrome had abnormal nuclei (Csoka et al., 2004). Garg et al. (2009) observed nuclear abnormalities in cells from patients with atypical Progeria syndrome who carried the T10I variant
Genetic Services Laboratory,University of Chicago RCV000502816 SCV000595615 likely pathogenic Familial partial lipodystrophy 2 2016-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622546 SCV000741340 pathogenic Inborn genetic diseases 2016-03-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
OMIM RCV000015599 SCV000035864 pathogenic Dilated cardiomyopathy 1A 2003-08-01 no assertion criteria provided literature only
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057387 SCV000088500 not provided not provided no assertion provided not provided
Medical Research Institute,Tokyo Medical and Dental University RCV000755005 SCV000809014 pathogenic Lipodystrophy (disease) 2017-10-04 no assertion criteria provided research Patient, a 31 year-old woman, was noted to present with generalized lipodystrophy in childhood. She had hypertriglyceridemia. Metreleptin therapy was started. Aortic stenosis was noted and aortic valve implantation was conducted. This mutation was heterozygous.

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