Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044378 | SCV001208172 | uncertain significance | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 2023-02-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs375987275, gnomAD 0.004%). 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 842036). This variant has not been reported in the literature in individuals affected with SYNE2-related conditions. This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 4892 of the SYNE2 protein (p.His4892Gln). |
Ambry Genetics | RCV003160323 | SCV003884076 | uncertain significance | Inborn genetic diseases | 2023-01-18 | criteria provided, single submitter | clinical testing | The c.14676C>A (p.H4892Q) alteration is located in exon 79 (coding exon 78) of the SYNE2 gene. This alteration results from a C to A substitution at nucleotide position 14676, causing the histidine (H) at amino acid position 4892 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |