Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001216465 | SCV001370062 | uncertain significance | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,BP4. |
Invitae | RCV001216465 | SCV001388264 | uncertain significance | Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 2022-11-18 | 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: 931996). This variant has not been reported in the literature in individuals affected with SYN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 553 of the SYN1 protein (p.Ser553Pro). |
Ambry Genetics | RCV002559271 | SCV003546833 | uncertain significance | Inborn genetic diseases | 2022-06-10 | criteria provided, single submitter | clinical testing | The c.1657T>C (p.S553P) alteration is located in exon 12 (coding exon 12) of the SYN1 gene. This alteration results from a T to C substitution at nucleotide position 1657, causing the serine (S) at amino acid position 553 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |