ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly)

gnomAD frequency: 0.00001  dbSNP: rs573355547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313767 SCV001504272 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-06-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 24630 of the TTN protein (p.Arg24630Gly). There is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs573355547, ExAC 0.04%). This variant has not been reported in the literature in individuals with TTN-related disease. 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 missense changes on protein structure and function are unavailable for the TTN gene. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Fulgent Genetics, Fulgent Genetics RCV002486224 SCV002790870 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 2022-02-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222302 SCV003916181 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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