Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194914 | SCV000249262 | uncertain significance | not specified | 2014-04-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194914 | SCV000725789 | likely benign | not specified | 2017-12-26 | 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. |
Labcorp Genetics |
RCV000642862 | SCV000764549 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2025-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002453712 | SCV002736195 | likely benign | Cardiovascular phenotype | 2019-09-10 | 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. |
Revvity Omics, |
RCV003137776 | SCV003826549 | uncertain significance | not provided | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000194914 | SCV005204962 | uncertain significance | not specified | 2024-06-10 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.44183G>A (p.Arg14728His) results in a non-conservative amino acid change located in the A-band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00024 in 247804 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in TTN causing Limb-Girdle Muscular Dystrophy, Type 2J, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.44183G>A in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 212470). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Mayo Clinic Laboratories, |
RCV003137776 | SCV005413086 | uncertain significance | not provided | 2024-03-13 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000194914 | SCV006069248 | likely benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing |