ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)

gnomAD frequency: 0.00001  dbSNP: rs1380054566
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507325 SCV000605494 uncertain significance not specified 2017-02-16 criteria provided, single submitter clinical testing
Invitae RCV000550489 SCV000643722 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496971 SCV002783012 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 2021-11-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403193 SCV004106026 uncertain significance TTN-related condition 2022-12-21 criteria provided, single submitter clinical testing The TTN c.79342G>A variant is predicted to result in the amino acid substitution p.Val26448Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179431517-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507325 SCV004223686 uncertain significance not specified 2023-11-10 criteria provided, single submitter clinical testing Variant summary: TTN c.71638G>A (p.Val23880Met) results in a conservative amino acid change located in the A-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 1.2e-05 in 248198 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.71638G>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. 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.