Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227326 | SCV001399679 | uncertain significance | Congenital muscular hypertrophy-cerebral syndrome | 2021-09-21 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs376589639, ExAC 0.01%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SMC1A-related conditions. This sequence change replaces serine with leucine at codon 882 of the SMC1A protein (p.Ser882Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. |