Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV002465052 | SCV002759445 | likely pathogenic | Geroderma osteodysplastica | 2022-08-18 | criteria provided, single submitter | clinical testing | The c.287del variant is not present in publicly available population databases like 1000 Genomes, EVS, gnomAD and Indian Exome Database. The variant is not present in our in-house exome database. This variant has not been reported in literature or any clinical databases like ClinVar, Human Genome Mutation Database (HGMD) and OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome etc. predicted this variant to be likely deleterious. The variant causes frameshift at the 121th amino acid position of the wild-type transcript which creates a translational premature stop signal at the 180th amino acid position of the altered transcript that either may causes nonsense mediated decay of the mRNA or results in translating a truncated protein. |