Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489846 | SCV000577545 | uncertain significance | not provided | 2017-03-21 | criteria provided, single submitter | clinical testing | The Q55H variant has been reported previously in the heterozygous state in an individual with CMT2 and spasticity who also had variants in two other genes that may have been responsible for the phenotype; therefore, the authors conclude that Q55H is not pathogenic (Høyer et al., 2014). The Q55H variant is observed in 14/6614 (0.2%) alleles from individuals of Finnish background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q55H variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or a rare benign variant. |
Invitae | RCV001083586 | SCV000642316 | likely benign | Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000489846 | SCV001148357 | uncertain significance | not provided | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173342 | SCV001336430 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |