ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68329+2_68329+3insTT

dbSNP: rs536078303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab, Charite University Medicine Berlin RCV000853166 SCV000995880 likely pathogenic Familial restrictive cardiomyopathy 2019-07-03 criteria provided, single submitter research
Revvity Omics, Revvity Omics RCV001784466 SCV002021492 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing
Invitae RCV001858516 SCV002171528 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-02 criteria provided, single submitter clinical testing This sequence change falls in intron 321 of the TTN gene. It does not directly change the encoded amino acid sequence of the TTN protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs536078303, gnomAD 0.08%). This variant has been observed in individual(s) with restrictive cardiomyopathy (PMID: 31568572). ClinVar contains an entry for this variant (Variation ID: 691834). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant is located in the A band of TTN (PMID: 25589632). Variants in this region may be relevant for cardiac or neuromuscular disorders (PMID: 25589632, 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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