Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000779065 | SCV000915531 | uncertain significance | Hereditary intrinsic factor deficiency | 2018-10-29 | criteria provided, single submitter | clinical testing | The GIF c.232C>T (p.Gln78Ter) variant is a stop-gained variant that is expected to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and protein change. No publications were found through this search. The p.Gln78Ter variant is not reported in the 1000 Genomes Project, Exome Sequencing Project, Exome Aggregation Consortium, or Genome Aggregation Database, despite its location in a region of good sequencing coverage. It is therefore presumed to be rare. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, the p.Gln78Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for intrinsic factor deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |