Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040966 | SCV000064657 | uncertain significance | not specified | 2012-10-17 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Lys32641Gln var iant in TTN has not been reported in the literature nor previously identified by our laboratory. It has been reported in dbSNP (rs56365812) without frequency i nformation. The affected amino acid is not well conserved in evolution, suggest ing that a change may be tolerated. Other computational analyses (biochemical a mino acid properties, AlignGVGD, PolyPhen2, and SIFT) also suggest that the Lys3 2641Gln variant may not impact the protein, though this information is not predi ctive enough to rule out pathogenicity. This variant is more likely benign but a t this time, additional information is needed to fully assess its clinical signi ficance. |
Gene |
RCV000040966 | SCV000237952 | uncertain significance | not specified | 2014-07-08 | criteria provided, single submitter | 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 CARDIOMYOPATHY panel(s). |
Fulgent Genetics, |
RCV002483022 | SCV002789522 | 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 | 2021-08-25 | criteria provided, single submitter | clinical testing |