ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56347+1G>A

dbSNP: rs1576251664
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000824893 SCV000965810 likely pathogenic Early-onset myopathy with fatal cardiomyopathy criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001377760 SCV001575173 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-07-19 criteria provided, single submitter clinical testing This variant is located in the A band of TTN (PMID: 25589632). Truncating variants in this region are significantly overrepresented in patients affected with dilated cardiomyopathy (PMID: 25589632). Truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 666352). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 289 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV004545885 SCV004183395 likely pathogenic TTN-related disorder 2020-01-03 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PM2
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere RCV004764945 SCV005375133 uncertain significance Dilated cardiomyopathy 1G 2024-01-07 no assertion criteria provided clinical testing

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