Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000632718 | SCV000753904 | uncertain significance | Neuronal ceroid lipofuscinosis | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002360525 | SCV002661990 | uncertain significance | Inborn genetic diseases | 2017-11-29 | criteria provided, single submitter | clinical testing | The p.L412R variant (also known as c.1235T>G), located in coding exon 9 of the CTSD gene, results from a T to G substitution at nucleotide position 1235. The leucine at codon 412 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |