Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154938 | SCV000204620 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Val13164Val in exon 201 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/6710 European American chromosomes from a broad population by the NHLBI Exome Sequencing Proje ct (http://evs.gs.washington.edu/EVS). |
Invitae | RCV001089087 | SCV000643233 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000714040 | SCV000844703 | likely benign | not provided | 2018-05-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000714040 | SCV000884805 | uncertain significance | not provided | 2018-06-12 | criteria provided, single submitter | clinical testing | The p.Val13164Val variant (rs369979598) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.003 percent (identified on 8 out of 275,964 chromosomes) and has been reported to the ClinVar database (Variation ID: 178206). The nucleotide for this synonymous variant is weakly conserved, and computational analyses (Alamut v.2.11) predict that it may impact splicing by creating a novel cryptic donor in exon 253 located in the A-band of the TTN protein. Although truncating variants in the A-band are associated with increased risk of dilated cardiomyopathy (Schafer 2017), the clinical significance of the p.Val13164Val variant cannot be determined with certainty. |
Gene |
RCV000714040 | SCV000980911 | likely benign | not provided | 2021-01-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002415662 | SCV002721564 | likely benign | Cardiovascular phenotype | 2021-06-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |