Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172371 | SCV000055038 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000040081 | SCV000063772 | uncertain significance | not specified | 2012-11-05 | criteria provided, single submitter | clinical testing | The Pro8292Thr variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 1/593 chr omosomes from the broad and racially unspecified ClinSeq population (dbSNP rs201 121983); however, this could be an asymptomatic individual. Computational analys es (biochemical amino acid properties, conservation, AlignGVGD, and PolyPhen2) s uggest that the Pro8292Thr variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. Additional informatio n is needed to fully assess the clinical significance of the Pro8292Thr variant. |
Gene |
RCV000040081 | SCV000238396 | uncertain significance | not specified | 2013-04-03 | 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 DCM panel(s). |