Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463168 | SCV000542529 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-07-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619319 | SCV000736557 | likely benign | Cardiovascular phenotype | 2021-05-24 | 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. |
Mayo Clinic Laboratories, |
RCV001509189 | SCV001715767 | uncertain significance | not provided | 2021-09-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001509189 | SCV001817711 | likely benign | not provided | 2019-01-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001509189 | SCV003826714 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479122 | SCV004223620 | uncertain significance | not specified | 2023-11-09 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.40674_40676delATT (p.Leu13558del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 6.4e-05 in 248198 control chromosomes (gnomAD). To our knowledge, no occurrence of c.40674_40676delATT in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. Five submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign (n=2) and VUS (n=3). Based on the evidence outlined above, the variant was classified as uncertain significance. |