Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000273229 | SCV000345020 | uncertain significance | not provided | 2016-09-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001451526 | SCV001655156 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004021303 | SCV005020819 | likely benign | Cardiovascular phenotype | 2023-10-10 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV005055837 | SCV005726193 | uncertain significance | not specified | 2024-11-19 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.92286A>G alters a non-conserved nucleotide resulting in a synonymous change. Several computational tools predict a significant impact on normal splicing: Two predict the variant abolishes a cryptic 5' donor site. Two predict the variant weakens a cryptic 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8.1e-06 in 247700 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.92286A>G in individuals affected with Autosomal Recessive Titinopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 290459). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005055837 | SCV006065239 | likely benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing |