Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038730 | SCV000062408 | uncertain significance | not specified | 2010-06-01 | criteria provided, single submitter | clinical testing | The Val491Leu variant has not been reported in the literature. Valine (Val) at position 491 is conserved across mammals, indicating that the change observed in this individual may not be tolerated. |
Invitae | RCV001369095 | SCV001565524 | uncertain significance | Myofibrillar myopathy 4 | 2022-12-02 | 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 missense change has been observed in individual(s) with clinical features of LDB3-related conditions (PMID: 33500567). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 491 of the LDB3 protein (p.Val491Leu). The LDB3 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_007078.3, and corresponds to NM_001080116.1:c.*17192G>T in the primary transcript. |