ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65276-8T>C

gnomAD frequency: 0.00046  dbSNP: rs377484398
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Total submissions: 4
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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 RCV000040491 SCV000064182 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing c.57572-8T>C in intron 260 of TTN: This variant is not expected to have clinical significance because a T>C change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 0.21% (10/4750) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs377484398).
GeneDx RCV000040491 SCV000236673 benign not specified 2014-10-02 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 RCV001084825 SCV000643526 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-12-01 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000727837 SCV000855276 uncertain significance not provided 2017-09-13 criteria provided, single submitter clinical testing

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