ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.3G>C (p.Met1Ile) (rs794728598)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236357 SCV000292999 pathogenic not provided 2017-04-28 criteria provided, single submitter clinical testing The c.3 G>C pathogenic variant in the LMNA gene has not been reported as a disease-causing variant or as a benign polymorphism to our knowledge. This variant alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. Two variants which affect the Met1 residue have been reported in association with laminopathies (Walter M et al., 2005; van Tintelen et al., 2007). Walter et al. (2005) identified a 15bp deletion starting at c.-3 that includes the Met1 codon in a family with symptoms of Emery-Driefuss muscular dystrophy, limb girdle muscular dystrophy with atrioventricular disturbance and dilated cardiomyopathy with conduction defects. van Tintelen et al. (2007) identified a deletion of the 5' end of the LMNA gene, including exon 1 and the Met1 codon in a family presenting with severe, early onset myocardial fibrosis. Also, a different nucleotide change at the same position, c.3 G>T, has been observed in other unrelated individuals tested for DCM at GeneDx. In summary, c.3 G>C in the LMNA gene is interpreted as a disease-causing variant"
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678713 SCV000804880 likely pathogenic not specified 2015-10-16 no assertion criteria provided clinical testing

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