Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528335 | SCV000641691 | uncertain significance | Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 | 2017-04-25 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SIX1-related disease. This sequence change replaces serine with isoleucine at codon 215 of the SIX1 protein (p.Ser215Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. |