ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)

gnomAD frequency: 0.00061  dbSNP: rs370036981
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Total submissions: 11
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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 RCV000218752 SCV000270977 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing p.Gly4461Gly in exon 55 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (19/9796) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org/).
GeneDx RCV001697288 SCV000532134 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000474595 SCV000555236 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000218752 SCV000701197 likely benign not specified 2017-04-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000218752 SCV001431965 likely benign not specified 2020-08-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840337 SCV002100029 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840338 SCV002100030 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840339 SCV002100031 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840336 SCV002100032 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000218752 SCV001917857 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001697288 SCV001975147 likely benign not provided no assertion criteria provided clinical testing

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