ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3069C>T (p.Thr1023=)

gnomAD frequency: 0.00019  dbSNP: rs371447978
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Total submissions: 5
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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 RCV000214036 SCV000271013 likely benign not specified 2015-11-09 criteria provided, single submitter clinical testing p.Thr1023Thr in exon 18 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 6/10394 African ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs37144978).
Invitae RCV001089024 SCV000286567 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726627 SCV000701827 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000726627 SCV000730322 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433930 SCV002746080 likely benign Cardiovascular phenotype 2018-10-03 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.

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