ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1851C>T (p.Ala617_Ser618=)

gnomAD frequency: 0.00158  dbSNP: rs143189394
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000041336 SCV000065029 benign not specified 2012-02-09 criteria provided, single submitter clinical testing Ala617Ala in exon 11 of LMNA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.4% (16/3738) African American chromosomes by the NHLBI Exome Sequencing Project in a broad population (; dbSNP rs143189394).
Invitae RCV000234314 SCV000291555 benign Charcot-Marie-Tooth disease type 2 2021-12-17 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000041336 SCV000338848 benign not specified 2016-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000041336 SCV000513501 benign not specified 2015-04-16 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.
Genetic Services Laboratory,University of Chicago RCV000041336 SCV000595614 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769733 SCV000901155 benign Cardiomyopathy 2015-10-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769733 SCV000913460 benign Cardiomyopathy 2018-03-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000041336 SCV000917593 benign not specified 2018-05-29 criteria provided, single submitter clinical testing Variant summary: LMNA c.1851C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant is found at a frequency of 0.000448 in the gnomAD database, but was observed predominantly in the African subpopulation at a frequency of 0.005139. The observed variant frequency within African control individuals in the gnomAD database is more than 20 fold above the estimated maximal expected allele frequency for a pathogenic variant in LMNA causing Cardiomyopathy phenotype (0.005139 vs. 0.00025), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. c.1851C>T has been reported in the literature, however this report does not provide unequivocal conclusions about association of the variant with Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173409 SCV001336497 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000041336 SCV001921461 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701583 SCV001929195 likely benign not provided no assertion criteria provided clinical testing

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