Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de genetique medicale, |
RCV000721941 | SCV000851992 | likely pathogenic | Giant axonal neuropathy 1 | 2018-11-07 | no assertion criteria provided | clinical testing | The chr16:g.[(81367334_81379355)_(81401689_81410823)del] (GRCh37,NC_000016.9) variant (inherited from the father) have been found in compound heterozygous state with the chr16:g.[81391453C>T (GRCh37, NC_000016.9) variant (inherited from the mother) in a patient with a consistent phenotype with Giant axonal neuropathy-1 (OMIM #256850). These variants (one CNV and one SNV) have been found with an arrayCGH and a targeted sequencing panel focusing on a reported gene associated with neuropathy. The CNV has been confirmed by quantitative PCR analysis. No functional test has been performed. These variants are not currently reported in any public databases. |