ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)

gnomAD frequency: 0.00004  dbSNP: rs370904881
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172328 SCV000054997 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Athena Diagnostics RCV000172328 SCV002770607 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485106 SCV002777455 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 2021-08-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000172328 SCV003826672 uncertain significance not provided 2019-10-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003398883 SCV004122029 uncertain significance not specified 2023-10-23 criteria provided, single submitter clinical testing Variant summary: TTN c.37495G>A (p.Asp12499Asn) results in a conservative amino acid change located in the I-band domain of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.1e-05 in 247384 control chromosomes. c.37495G>A has been reported in the literature in an infant affected with sudden cardiac death with an alternate predicted pathogenic variant (e.g. Campuzano_2018). These report(s) do not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 30086531). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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.