Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203129 | SCV001374276 | uncertain significance | Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L | 2022-10-25 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 934689). This missense change has been observed in individual(s) with ANO5-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 265 of the ANO5 protein (p.Asn265Ile). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |