ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15497-2A>G

dbSNP: rs1232334931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695112 SCV000823592 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-03-08 criteria provided, single submitter clinical testing 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. 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: 573440). 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 an acceptor splice site in intron 52 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein.
AiLife Diagnostics, AiLife Diagnostics RCV002223914 SCV002501992 uncertain significance not provided 2022-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493196 SCV002787276 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-27 criteria provided, single submitter clinical testing

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