ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18561G>A (p.Ala6187=)

gnomAD frequency: 0.00004  dbSNP: rs377556808
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Total submissions: 8
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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 RCV000222606 SCV000270981 likely benign not specified 2015-08-13 criteria provided, single submitter clinical testing p.Ala4943Ala in Exon 60 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. It has been identified in 1/ 66688 European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; rs377556808).
Eurofins Ntd Llc (ga) RCV000726151 SCV000342465 uncertain significance not provided 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV001085746 SCV000555002 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-04-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769069 SCV000900442 likely benign Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726151 SCV003916205 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003967586 SCV004792334 likely benign TTN-related condition 2019-07-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000726151 SCV001741396 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000726151 SCV001798163 likely benign not provided no assertion criteria provided clinical testing

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