ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val)

gnomAD frequency: 0.00003  dbSNP: rs371498697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689623 SCV000817282 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-02-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 27084 of the TTN protein (p.Ile27084Val). There is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs371498697, ExAC 0.05%). This variant has not been reported in the literature in individuals with TTN-related disease. This variant identified in the TTN gene is located in the A band of the resulting protein (PMID: 25589632). It is unclear how this variant impacts the function of this protein. Algorithms developed to predict the effect of missense changes on protein structure and function are unavailable for the TTN gene. The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. This prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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.
Eurofins Ntd Llc (ga) RCV000734994 SCV000863181 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000734994 SCV001778955 likely benign not provided 2020-09-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265860 SCV002547656 uncertain significance not specified 2022-05-02 criteria provided, single submitter clinical testing

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