Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658216 | SCV000779987 | uncertain significance | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | Reported in a patient with severe bronchopulmonary dysplasia in published literature (PMID: 31848748); Identified in a patient with myopathy, neuropathy, and deafness in published literature (PMID: 34103343); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31848748, 34103343) |
Invitae | RCV000658216 | SCV002127191 | uncertain significance | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs373929652, ExAC 0.07%). This sequence change replaces arginine with cysteine at codon 680 of the MYH14 protein (p.Arg680Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant has not been reported in the literature in individuals with MYH14-related conditions. ClinVar contains an entry for this variant (Variation ID: 546353). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. |