ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20449del (p.Ser6817fs)

dbSNP: rs2079254006
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250555 SCV001425388 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-02-18 criteria provided, single submitter clinical testing c.20449delA (p.Ser6817fs) has not been reported in ClinVar nor the literature, to our knowledge. This variant is absent from large population datasets. This frameshift variant results in a premature stop codon in exon 70 of 363 likely leading to nonsense-mediated mRNA decay and lack of protein production. Variants that impact both the N2BA and N2B cardiac isoforms of TTN have been reported to increase the risk of cardiac disease in patients with congenital titinopathy. This frameshift variant is not predicted to affect N2B, which is the predominant adult cardiac isoform of TTN. We consider this variant to be likely pathogenic.

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.