Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172451 | SCV000051225 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Labcorp Genetics |
RCV000462612 | SCV000542546 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172451 | SCV001153154 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |
Illumina Laboratory Services, |
RCV001563648 | SCV001786635 | uncertain significance | TTN-related myopathy | 2021-03-22 | criteria provided, single submitter | clinical testing | The TTN c.10770G>C (p.Glu3590Asp) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications describing the p.Glu3590Asp variant in association with TTN-related myopathy were found based on this search. The p.Glu3590Asp variant is reported at a frequency of 0.0007746 in the Ashkenazi Jewish population of the Genome Aggregation Database. In silico prediction of pathogenicity for this variant suggest that it is tolerated/benign. However, currently available in silico prediction tools may have limited utility in the assessment of missense variants in the TTN gene (Rees et al. 2021). Based on the limited evidence and application of the ACMG criteria, the p.Glu3590Asp variant is classified as a variant of uncertain significance for TTN-related myopathy. |
Arcensus | RCV002466253 | SCV002564615 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2013-02-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500451 | SCV002797054 | 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 | 2021-12-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172451 | SCV000238079 | not provided | not provided | 2014-02-27 | no assertion provided | clinical testing | Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM panel(s). |