Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152326 | SCV000201215 | uncertain significance | not specified | 2017-11-06 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ala15103Val v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 5/23972 of African chromosomes by the Genome Aggre gation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs549478203). A lanine (Ala) at position 15103 is not conserved in mammals or evolutionarily dis tant species and at least 10 fish species carry a valine (Val) at this position, raising the possibility that a change at this position may be tolerated. Additi onal computational prediction tools suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogeni city. In summary, while the clinical significance of the p.Ala15103Val variant i s uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Cr iteria applied: BP4 (Richards 2015). |
Ambry Genetics | RCV000250139 | SCV000318713 | uncertain significance | Cardiovascular phenotype | 2013-05-30 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Labcorp Genetics |
RCV000541819 | SCV000643332 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152326 | SCV000719582 | likely benign | not specified | 2017-05-16 | 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. |
Revvity Omics, |
RCV003137656 | SCV003825510 | uncertain significance | not provided | 2020-10-06 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000152326 | SCV006068785 | likely benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing |