ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56963-19_56963-18delinsTC

dbSNP: rs2154190692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001638403 SCV001850012 benign not provided 2015-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072944 SCV002433765 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-02-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317518 SCV004020352 likely benign not specified 2023-06-12 criteria provided, single submitter clinical testing Variant summary: TTN c.49259-19_49259-18delinsTC alters a nucleotide located in the intronic region. SpliceAI predicts no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 270094 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.49259-19_49259-18delinsTC in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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