ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) (rs138240658)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040358 SCV000064049 benign not specified 2012-12-06 criteria provided, single submitter clinical testing Arg15502Arg in exon 230 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 1.0% (38/3784) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS/dbSNP rs138240658). Arg15502Arg in exon 230 of TTN (rs138240658; allele frequency= 1.0%, 38/3784) **
Invitae RCV001085686 SCV000555129 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619713 SCV000736703 benign Cardiovascular phenotype 2016-11-03 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040358 SCV000855285 benign not specified 2018-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756853 SCV000884806 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing The c.46504A>C; p.Arg15502Arg variant does not alter the amino acid sequence of the TTN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant is listed in the genome Aggregation Database (gnomAD) with a frequency of 0.8 % in the African population (identified on 193 out of 23,958 chromosomes, including 1 homozygote), and evidence suggests that the vast majority of rare non-truncating TTN variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the c.46504A>C; p.Arg15502Arg variant is likely to be benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770007 SCV000901433 benign Cardiomyopathy 2016-04-05 criteria provided, single submitter clinical testing

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