Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198150 | SCV001368993 | likely pathogenic | Autosomal recessive spinocerebellar ataxia 20 | 2019-09-24 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV001198150 | SCV002820113 | likely pathogenic | Autosomal recessive spinocerebellar ataxia 20 | criteria provided, single submitter | clinical testing | The stop gained p.Q434* in SNX14 (NM_153816.6) has been reported to ClinVar as Likely Pathogenic, but no details are available for independent assesment. The variant has not been reported in affected individuals. The p.Q434* variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been reported previously to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |