Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001044548 | SCV001208352 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2022-06-13 | 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. Experimental studies have shown that this missense change affects DAG1 function (PMID: 21388311, 29036200, 31097590). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 31762). This missense change has been observed in individual(s) with muscular dystrophy-dystroglycanopathy (PMID: 21388311). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 192 of the DAG1 protein (p.Thr192Met). |
| OMIM | RCV000022532 | SCV000043821 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2P | 2011-03-10 | no assertion criteria provided | literature only | |
| Leiden Muscular Dystrophy |
RCV000024453 | SCV000045748 | not provided | not provided | 2011-05-13 | no assertion provided | curation |