Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000994492 | SCV001148063 | likely pathogenic | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001291710 | SCV001480295 | likely pathogenic | Autosomal recessive spinocerebellar ataxia 17 | 2019-09-27 | criteria provided, single submitter | clinical testing | The c.942del, p.Pro315GlnfsTer68,a novel frameshift variant identified in CWF19L1 has not been reported in the available literature. This variant is also not reported in gnomAD database indicating this is a rare allele. The detected variant causes a 1 bp deletion at amino acid 315, which is predicted to cause a frameshift and premature stop further downstream and in silico tool predicts the variant is expected to result in an absent protein product through nonsense-mediated mRNAdecay [PMID: 24681721]. Based on the available evidence, the c.942del, p.Pro315GlnfsTer68 variant in the CWF19L1 gene is classified as likely pathogenic. |