Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002512675 | SCV003516251 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-07-25 | 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. Experimental studies have shown that this missense change affects SYNE1 function (PMID: 17761684). 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 2333). This variant is also known as p.V572L, p.V8387L. This missense change has been observed in individual(s) with Emery-Dreifuss muscular dystrophy (PMID: 17761684). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 8339 of the SYNE1 protein (p.Val8339Leu). |
OMIM | RCV000002423 | SCV000022581 | uncertain significance | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2007-12-01 | no assertion criteria provided | literature only |