ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14240A>T (p.Asp4747Val)

gnomAD frequency: 0.00031  dbSNP: rs149586047
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155001 SCV000204683 uncertain significance not specified 2013-10-14 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp4747Val vari ant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.2% (8/4404) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs14958 6047). Computational analyses are limited or unavailable for this variant. While this frequency suggests that this variant is more likely benign, it is too low to confidently rule out a disease-causing role. Additional information is needed to fully assess its clinical significance.
Eurofins Ntd Llc (ga) RCV000730561 SCV000858308 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484932 SCV002782534 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 2021-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004534981 SCV004120292 uncertain significance TTN-related disorder 2023-05-08 criteria provided, single submitter clinical testing The TTN c.14240A>T variant is predicted to result in the amino acid substitution p.Asp4747Val. This variant is referred to as c.11311+4964A>T (intronic) with an alternate transcript NM_001267550.2. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.061% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179612887-T-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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