Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000388862 | SCV000434266 | uncertain significance | Periventricular heterotopia with microcephaly, autosomal recessive | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Gene |
RCV000427962 | SCV000522083 | uncertain significance | not provided | 2015-12-31 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the ARFGEF2 gene. The D283N variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. It was not observed with any significant frequency in approximately 6,500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project. The D283Nvariant is a semi-conservative amino acid substitution, which may impact secondary protein structureas these residues differ in some properties. However, this substitution occurs at a position that is notconserved, and in silico analysis predicts this variant likely does not alter the proteinstructure/function. Therefore, based on the currently available information, it is unclear whether thisvariant is a pathogenic variant or a rare benign variant. |