ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11991T>C (p.Ile3997=)

gnomAD frequency: 0.00001  dbSNP: rs565546452
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Total submissions: 12
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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 RCV000152424 SCV000201470 likely benign not specified 2014-07-01 criteria provided, single submitter clinical testing Ile3759Ile in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
GeneDx RCV000152424 SCV000516993 benign not specified 2015-06-01 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.
Invitae RCV000869363 SCV001010782 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171050 SCV001333719 benign Cardiomyopathy 2018-03-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840108 SCV002100862 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840109 SCV002100864 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840110 SCV002100865 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840107 SCV002100866 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444631 SCV002734779 likely benign Cardiovascular phenotype 2022-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen RCV001729412 SCV004148154 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
Clinical Genetics, Academic Medical Center RCV000152424 SCV001978846 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729412 SCV001980284 likely benign not provided no assertion criteria provided clinical testing

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