ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57544+7dup

gnomAD frequency: 0.00009  dbSNP: rs750881309
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Total submissions: 9
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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 RCV000222617 SCV000271041 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing c.49840+7_49840+8insA in intron 243 of TTN: This variant is not expected to have clinical significance because it is not located within the splice consensus seq uence. It has been identified in 2/43244 European chromosomes by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org).
Invitae RCV000456203 SCV000542528 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727760 SCV000855143 uncertain significance not provided 2018-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000727760 SCV001869989 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000222617 SCV002014952 uncertain significance not specified 2021-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003407742 SCV004115298 uncertain significance TTN-related condition 2023-05-25 criteria provided, single submitter clinical testing The TTN c.57544+7dupA variant is predicted to result in an intronic duplication. This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual Plus v1.6.1). However, the use of computer prediction programs is not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0073% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179462257-G-GT). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen RCV000727760 SCV004152364 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing TTN: BP4
Athena Diagnostics Inc RCV000727760 SCV004229390 uncertain significance not provided 2023-01-29 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000727760 SCV004565258 likely benign not provided 2023-03-02 criteria provided, single submitter clinical testing

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