Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853313 | SCV000996160 | pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | 2018-06-27 | criteria provided, single submitter | clinical testing | This nonsense variant found in exon 4 of 18 is predicted to result in loss of normal protein function. Loss of function variants are an established mechanism for disease in SCYL1. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.526A>T (p.Lys176Ter) variant is predicted by multiple in silico tools to have a deleterious effect on protein function. This variant was detected in trans with a pathogenic variant. Based on the available evidence, the c.526A>T (p.Lys176Ter) variant is classified as pathogenic. |
Prevention |
RCV003424376 | SCV004107051 | likely pathogenic | SCYL1-related disorder | 2022-10-02 | criteria provided, single submitter | clinical testing | The SCYL1 c.526A>T variant is predicted to result in premature protein termination (p.Lys176*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SCYL1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |