Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratório de Neurologia Aplicada e Experimental, |
RCV002221637 | SCV001977111 | uncertain significance | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | 2021-07-20 | criteria provided, single submitter | research | The c.5824G>A (p.Glu1942Lys) variant in the MYH14 gene has not been described in the literature to our knowledge. Our lab found it once, in heterozygous, in a 17-years-old female with a mild CMT2 phenotype. This variant replaces Glutamic acid with Lysine at codon 1942 of the MYH14 protein, which is not very conserved in different species. This variant is not present in population databases (GnomAD and ABraOM), suggesting it is not a common benign variant in these populations. In summary, the available evidence is insufficient to determine the clinical significance of this variant. Therefore, it has been classified as a variant of uncertain significance (VUS). |