ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.357C>T (p.Arg119=) (rs41313880)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041345 SCV000604108 likely benign not specified 2017-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000249770 SCV000318670 benign Cardiovascular phenotype 2013-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000041345 SCV000614029 benign not specified 2017-04-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768710 SCV000900080 benign Cardiomyopathy 2017-02-10 criteria provided, single submitter clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148598 SCV000190313 likely benign Emery-Dreifuss muscular dystrophy 2014-06-01 no assertion criteria provided research
CSER_CC_NCGL; University of Washington Medical Center RCV000211467 SCV000212169 likely benign Primary dilated cardiomyopathy 2015-03-11 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000057395 SCV000780300 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000057395 SCV000280919 likely benign not provided 2015-12-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Color RCV000768710 SCV000902999 benign Cardiomyopathy 2018-03-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041345 SCV000113216 likely benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057395 SCV000088508 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000041345 SCV000595596 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000148598 SCV000348781 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000041345 SCV000917597 benign not specified 2018-07-30 criteria provided, single submitter clinical testing Variant summary: LMNA c.357C>T (p.Arg119Arg) alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0033 in 277140 control chromosomes in the gnomAD database, including 2 homozygotes. The observed variant frequency is approximately 13-fold of the estimated maximal expected allele frequency for a pathogenic variant in LMNA causing Cardiomyopathy phenotype (0.00025), strongly suggesting that the variant is benign. The variant, c.357C>T, has been reported in the literature and classified as likely benign by the authors (Dorschner_2013). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Seven clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (6x likely benign/benign, 1x VUS). Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000228540 SCV000291559 benign Charcot-Marie-Tooth disease, type 2 2018-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041345 SCV000065038 benign not specified 2012-06-06 criteria provided, single submitter clinical testing Arg119Arg in exon 2 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and has been identified in 0.3% (24/7020) of European American chromosomes from a broad population by th e NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs413 13880).
PreventionGenetics RCV000041345 SCV000316409 likely benign not specified criteria provided, single submitter clinical testing

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