ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.111G>A (p.Glu37=) (rs886038906)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247889 SCV000318987 likely benign Cardiovascular phenotype 2013-10-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726524 SCV000345227 uncertain significance not provided 2016-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000726524 SCV000619476 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the LMNA gene. The c.111 G>A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This nucleotide substitution does not change the encoded amino acid and the nucleotide position (G) is only conserved in mammals. Several in silico splice algorithms do not predict that this change results in abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.

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