ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met)

gnomAD frequency: 0.00001  dbSNP: rs755225678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690674 SCV000818373 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-26 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. 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 569919). This variant has not been reported in the literature in individuals affected with TTN-related conditions. This variant is present in population databases (rs755225678, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 25683 of the TTN protein (p.Ile25683Met).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002232896 SCV002511928 uncertain significance not specified 2022-04-05 criteria provided, single submitter clinical testing

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