ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1051A>C (p.Arg351=) (rs771623461)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587553 SCV000335107 uncertain significance not provided 2015-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000303208 SCV000534302 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000587553 SCV000699966 benign not provided 2017-07-18 criteria provided, single submitter clinical testing Variant summary: The LMNA c.1051A>C (p.Arg351Arg) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 14/120768 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.001212 (14/11554). This frequency is about 12 times the estimated maximal expected allele frequency of a pathogenic LMNA variant (0.0001042), suggesting this is likely a benign polymorphism found primarily in the populations of Latino origin. In addition, multiple clinical diagnostic laboratories have cited the variant with conflicting classifications "likely benign" or "uncertain significance." The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Due to the nature of the variant being synonymous and the high frequency in controls, the variant of interest has been classified as Benign.
Invitae RCV001088944 SCV001012988 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001183035 SCV001348685 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing

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