Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001874285 | SCV002122426 | uncertain significance | Myofibrillar myopathy 4 | 2023-02-02 | 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 is also known as c.1719G>A (p.V566M). This missense change has been observed in individual(s) with inclusion body myopathy (PMID: 22349865). This variant is present in population databases (rs549994359, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 676 of the LDB3 protein (p.Val676Met). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*26810G>A in the primary transcript. |
Gene |
RCV004591600 | SCV005081115 | uncertain significance | not provided | 2023-10-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported using an alternate transcript of the gene; Reported in a case of Inclusion body myositis (IBM) in published literature (Cai et al., 2012); This variant is associated with the following publications: (PMID: 22349865) |