Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040632 | SCV000064323 | uncertain significance | not specified | 2012-10-02 | criteria provided, single submitter | clinical testing | The Asp23371Ala variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, and PolyPhen2) suggest that the variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the cli nical significance of this variant. |
Invitae | RCV000526838 | SCV000643703 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001574137 | SCV001800898 | uncertain significance | not provided | 2020-09-09 | criteria provided, single submitter | clinical testing | Reported as D23371A due to the use of an alternate transcript in a 26-year-old Caucasian female with a personal and family history of DCM and myopathy, who also harbored additional cardiogenetic variants (Pugh et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 47362; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; This variant is associated with the following publications: (PMID: 24503780) |
Fulgent Genetics, |
RCV002504912 | SCV002814564 | 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 | 2021-08-16 | criteria provided, single submitter | clinical testing |