Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000215351 | SCV000272726 | uncertain significance | not specified | 2017-06-28 | criteria provided, single submitter | clinical testing | The p.Arg19490Cys variant in TTN has been reported by our laboratory in 1 indivi dual with DCM, has been identified in 0.09% (20/23668) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbS NP rs199643269), and has been reported in ClinVar (Variation ID: 229491). While truncating variants in TTN are strongly associated with DCM (Herman 2012), the r ole of missense variants and in-frame deletions/insertions has yet to be elucida ted. Computational prediction tools and conservation analysis do not provide str ong support for or against an impact to the protein. In summary, the clinical si gnificance of the p.Arg19490Cys variant is uncertain. |
Labcorp Genetics |
RCV000459142 | SCV000543078 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727313 | SCV000707479 | uncertain significance | not provided | 2017-04-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000215351 | SCV000716841 | likely benign | not specified | 2017-03-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002354614 | SCV002620674 | likely benign | Cardiovascular phenotype | 2020-02-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Clinical Genetics, |
RCV000727313 | SCV001917174 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000727313 | SCV001963070 | uncertain significance | not provided | no assertion criteria provided | clinical testing |