ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser)

gnomAD frequency: 0.00001  dbSNP: rs753121509
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230911 SCV000286777 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-02-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 21334 of the TTN protein (p.Asn21334Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs753121509, ExAC 0.01%) but has not been reported in the literature in individuals with a TTN-related disease. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. However, algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this missense variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare missense change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002487061 SCV002775105 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 2021-11-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235154 SCV003934173 uncertain significance not specified 2023-05-22 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.