Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV003485016 | SCV004232437 | likely pathogenic | Neurofibromatosis, familial spinal | 2024-01-23 | criteria provided, single submitter | clinical testing | The c.1873del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, Indian Exome Database or our in-house exome database. This variant has neither been published in literature with NF1-related conditions nor reported to the clinical databases like ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin, etc predicted this variant to be likely deleterious. This variant causes frameshift at the 625th amino acid position of the wild-type transcript which creates a premature translational stop signal at the altered transcript that may either result in translation of a truncated protein or causes nonsense mediated decay of the mRNA. |