ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)

gnomAD frequency: 0.00274  dbSNP: rs148525155
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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000118803 SCV000054867 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000118803 SCV000153430 uncertain significance not provided 2013-12-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154869 SCV000204551 benign not specified 2015-08-13 criteria provided, single submitter clinical testing p.Glu31815Gln in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 2.5% (166/6612) of Finnish chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148525155).
Eurofins Ntd Llc (ga) RCV000154869 SCV000229382 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000154869 SCV000237909 benign not specified 2017-04-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001086370 SCV000555369 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000118803 SCV000844604 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769847 SCV000901273 benign Cardiomyopathy 2017-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154869 SCV001372421 likely benign not specified 2020-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390268 SCV002675227 benign Cardiovascular phenotype 2018-10-31 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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 RCV000118803 SCV003916172 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing TTN: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000154869 SCV001739526 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154869 SCV001921312 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000154869 SCV001957900 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118803 SCV001970038 likely benign not provided no assertion criteria provided clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV002225083 SCV002503606 likely pathogenic Tip-toe gait no assertion criteria provided clinical testing Myopathy refers to diseases that affect skeletal Muscles. These diseases attack muscle fibers, making muscles weak. Inherited myopathies are often caused by inheriting an abnormal gene mutation from a parent that causes the disease. Symptoms of congenital myopathies usually start at birth or in early childhood, but may not appear until the teen years or even later in adulthood. Congenital myopathies are somewhat unique compared with other inherited myopathies, as weakness typically affects all muscles and is often not progressive. Symptoms are: Muscle weakness, most commonly of upper arms and shoulders and thighs, muscle cramps, stiffness and spasms, fatigue with exertion and lack of energy. Our patients all walk on tiptoe, so they show similar symptoms. When we genetically test them with our toe walking panel, we find that around 90 per cent of them have a genetic variant that explains their toe walking. These can be assigned, for example, to the area of myopathies (such as variants of the COL6A3 gene), the area of hereditary neuropathies (such as variants of the KMT2C gene) or the area of metabolic diseases (such as variants of the PYGM gene). In a smaller group of patients with almost identical symptoms, no abnormality is found in the genes of our panel, but spastic paraplegia can be detected. In another small group of our toe walkers, no abnormalities can be detected in the genes analysed in our toe walking panel, nor do they suffer from spastic paraplegia, as is also the case with healthy children. In contrast to these, however, they show a tiptoe gait. These patients suffer from infantile cerebral palsy, in which toe walking can also be observed.

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