Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987262 | SCV001136512 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000987262 | SCV002961455 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2022-07-20 | criteria provided, single submitter | clinical testing | This variant, c.607_618del, results in the deletion of 4 amino acid(s) of the POMGNT2 protein (p.Phe203_Tyr206del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 801963). This variant has not been reported in the literature in individuals affected with POMGNT2-related conditions. This variant is present in population databases (rs774277094, gnomAD 0.0009%). 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. |