Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000989514 | SCV001139929 | likely pathogenic | ALG1-congenital disorder of glycosylation | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000989514 | SCV002200179 | uncertain significance | ALG1-congenital disorder of glycosylation | 2024-12-22 | criteria provided, single submitter | clinical testing | This variant, c.34_51dup, results in the insertion of 6 amino acid(s) of the ALG1 protein (p.Cys12_Leu17dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ALG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 803207). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994181 | SCV004813178 | uncertain significance | not specified | 2024-02-20 | criteria provided, single submitter | clinical testing | Variant summary: ALG1 c.34_51dup18 (p.Cys12_Leu17dup) results in an in-frame duplication that is predicted to duplicate six amino acids into the encoded protein. The variant allele was found at a frequency of 9.3e-06 in 1604444 control chromosomes, predominantly at a frequency of 0.00011 within the African or African-American subpopulation in the gnomAD database (v4.0.0). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.34_51dup18 in individuals affected with Congenital Disorder Of Glycosylation Type 1K and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 803207). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV000989514 | SCV005646933 | uncertain significance | ALG1-congenital disorder of glycosylation | 2024-05-28 | criteria provided, single submitter | clinical testing |