ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1698+13_1698+14delinsTC (rs794728612)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725840 SCV000234734 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing The c.1711_1712delCGinsTC variant in the LMNA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1711_1712delCGinsTC variant results in a deletion of CG and insertion of TC, maintaining the reading frame and leading to an Arginine residue being replaced with a Serine residue at residue 571, denoted p.Arg571Ser. This variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. This variant is located within the globular caboxy-terminal tail domain (Bonne et al., 2000). The c.1711_1712delCGinsTC variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1711_1712delCGinsTC as a variant of uncertain significance.
Ambry Genetics RCV000249124 SCV000318876 uncertain significance Cardiovascular phenotype 2013-06-26 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725840 SCV000339877 uncertain significance not provided 2016-04-27 criteria provided, single submitter clinical testing
Color RCV001191556 SCV001359418 likely benign Cardiomyopathy 2019-09-10 criteria provided, single submitter clinical testing

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