Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156828 | SCV000206549 | uncertain significance | not specified | 2014-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003611499 | SCV004473457 | uncertain significance | Myofibrillar myopathy 4 | 2023-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 4 of the LDB3 protein (p.Ser4Arg). This variant is not present in population databases (gnomAD no frequency). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 180025). This missense change has been observed in individual(s) with left ventricular noncompaction (PMID: 33500567). |