Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194641 | SCV000249073 | uncertain significance | not specified | 2015-05-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001214487 | SCV001386170 | uncertain significance | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2022-02-10 | 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. 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: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 212331). This missense change has been observed in individual(s) with clinical features of SYN1-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 472 of the SYN1 protein (p.Pro472Ser). |