Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001270899 | SCV001451680 | uncertain significance | Congenital nonprogressive myopathy with Moebius and Robin sequences | 2019-06-04 | criteria provided, single submitter | clinical testing | The MYMK c.481G>C (p.Gly161Arg) variant is a missense variant. A literature search was performed for the gene, cDNA change and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000018 in the Total population from the Genome Aggregation Database in a region of good sequencing coverage. There is no functional evidence for this variant, but it is located in the transmembrane domain 6 (Di Gioia et al. 2017). Based on limited evidence, the p.Gly161Arg variant is classified as a variant of uncertain significance for Carey-Fineman-Ziter syndrome. |