Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000418131 | SCV000535026 | uncertain significance | not provided | 2016-12-20 | criteria provided, single submitter | clinical testing | The Q338H variant of uncertain significance in the SLC2A10 gene has not been published as a pathogenic variant,nor has it been reported as a benign variant to our knowledge. Q338H was not observed with any significant frequencyin the NHLBI Exome Sequencing Project or in the Exome Aggregation Consortium (ExAC). The Q338H variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ insome properties. However, this substitution occurs at a position that is not conserved, where Histidine is the nativeamino acid residue in multiple species. Furthermore, in silico analysis predicts this variant likely does not alter theprotein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. Thisresult cannot be interpreted for diagnosis or used for family member screening at this time. |
| Illumina Laboratory Services, |
RCV001136614 | SCV001296470 | uncertain significance | Arterial tortuosity syndrome | 2018-01-12 | 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. |