ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del)

dbSNP: rs727504556
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Total submissions: 2
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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 RCV004017431 SCV000205430 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing The p.Lys29282del variant in TTN has been identified in 1 individual with DCM and 1 individual with DCM and ARVC who also had another potentially disease-causing variant in another gene that could explain their phenotype (LMM data). In this family, the TTN variant was not identified in an affected relative who harbored the other disease-causing variant. This variant has also been reported by other clinical laboratories in ClinVar (Variation ID 178944) and was absent from large population studies. This variant is a deletion of 3 amino acids at position 29282 and is not predicted to alter the protein reading-frame. It is unclear if this deletion will impact the protein. In summary, while the clinical significance of this variant is uncertain, these data suggest that it is more likely to be benign ACMG/AMP Criteria applied: PM2_supporting, PM4_Supporting, BP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV000547595 SCV000643945 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-02-12 criteria provided, single submitter clinical testing

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