Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650534 | SCV000772380 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2020-10-10 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with POMGNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 540486). This variant is present in population databases (rs763778888, ExAC 0.01%). This sequence change affects codon 285 of the POMGNT2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POMGNT2 protein. |