Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650543 | SCV000772389 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2022-02-03 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs778907895, gnomAD 0.006%). 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. ClinVar contains an entry for this variant (Variation ID: 540495). This variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 111 of the POMGNT2 protein (p.Arg111His). |