Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055337 | SCV001219724 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-06-04 | 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: "Possibly Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 851035). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs555355654, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 4849 of the SYNE1 protein (p.Ile4849Phe). |
Prevention |
RCV003396685 | SCV004112538 | uncertain significance | SYNE1-related condition | 2023-03-15 | criteria provided, single submitter | clinical testing | The SYNE1 c.14545A>T variant is predicted to result in the amino acid substitution p.Ile4849Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-152651062-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |