Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001768641 | SCV001992445 | likely pathogenic | not provided | 2025-01-06 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in abnormal protein length as the last 71 amino acid(s) are replaced with 47 different amino acid(s), and other similar variants have been reported in HGMD; Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV003771940 | SCV004676659 | likely pathogenic | Tay-Sachs disease, variant AB | 2023-12-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu123Serfs*48) in the GM2A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 71 amino acid(s) of the GM2A protein. 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 GM2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1305434). This variant disrupts the C-terminus of the GM2A protein. Other variant(s) that disrupt this region (p.E158*, p.Pro124Leufs*48, p.His137Profs*34) have been observed in individuals with GM2A-related conditions (PMID: 8900233, 27402091, 28192816). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| Fulgent Genetics, |
RCV003771940 | SCV005670710 | likely pathogenic | Tay-Sachs disease, variant AB | 2024-05-01 | criteria provided, single submitter | clinical testing |