ClinVar Miner

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

gnomAD frequency: 0.00013  dbSNP: rs771623461
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000587553 SCV000335107 uncertain significance not provided 2015-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000587553 SCV000534302 likely benign not provided 2019-10-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001088944 SCV001012988 likely benign Charcot-Marie-Tooth disease type 2 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001183035 SCV001348685 likely benign Cardiomyopathy 2018-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392800 SCV002704037 likely benign Cardiovascular phenotype 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV003995764 SCV004818233 likely benign Primary dilated cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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