Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000171999 | SCV000050975 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000702324 | SCV000831173 | uncertain significance | Myofibrillar myopathy 4 | 2022-03-09 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (rs199749907, gnomAD 0.002%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 579 of the LDB3 protein (p.Tyr579Cys). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*18649A>G in the primary transcript. |
Ai |
RCV000171999 | SCV002503022 | uncertain significance | not provided | 2022-01-26 | criteria provided, single submitter | clinical testing |