Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223257 | SCV001395396 | uncertain significance | Myofibrillar myopathy 4 | 2022-10-24 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 951365). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 251 of the LDB3 protein (p.Ser251Ala). |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002509635 | SCV002819630 | uncertain significance | not specified | 2022-12-17 | criteria provided, single submitter | clinical testing |