Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226639 | SCV001398960 | uncertain significance | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 658 of the SYN1 protein (p.Pro658Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of SYN1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 954219). 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. |
Center for Genomics, |
RCV003224531 | SCV003920518 | uncertain significance | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual disability, X-linked 50 | 2022-10-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:954219). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |