Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187313 | SCV000240895 | uncertain significance | not provided | 2014-08-28 | criteria provided, single submitter | clinical testing | p.Gly187Gly (GGC>GGT): c.561 C>T in exon 5 of the CTSD gene (NM_001909.4). A variant of unknown significance has been identified in the CTSD gene. The c.561 C>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico models predict that the c.561 C>T substitution could potentially create a new cryptic splice donor site that may supplant the natural site in exon 5 and lead to abnormal splicing. However, in the absence of RNA/functional studies, the actual effect of the c.561 C>T sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI,EPILEPSY panel(s). |