Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| New York Genome Center | RCV001291763 | SCV001480379 | uncertain significance | Congenital disorder of glycosylation, type ICC | 2020-04-24 | criteria provided, single submitter | clinical testing | The inherited hemizygous c.94A>G (p.Asn32Asp) variant identified in the MAGT1 gene substitutes a well conserved Asparagine for Aspartic Acid at amino acid 32/368 (coding exon 1/10). This variant is found with low frequency in gnomAD (1 heterozygote, 0 homozygotes, 0 hemizygotes; allele frequency: 9.42e-6) suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms do not agree on the effect of this variant, as it is predicted both Damaging (SIFT; score: 0.027) and Neutral (Provean; score:-0.31) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Asn32 residue is not within a mapped domain of MAGT1 (UniProtKB; Q9H0U3). Given the lack of compelling evidence for its pathogenicity, the inherited hemizygous c.94A>G (p.Asn32Asp) variant identified in the MAGT1 gene is reported here as a Variant of Uncertain Significance. |
| Labcorp Genetics |
RCV001499822 | SCV001704597 | likely benign | X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia | 2024-01-15 | criteria provided, single submitter | clinical testing |