Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000269192 | SCV000351392 | uncertain significance | Kufor-Rakeb syndrome | 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 |
RCV001753750 | SCV001988343 | uncertain significance | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in the heterozygous state in a patient with Hirschsprung disease (HSCR) who also had several variants reported in other genes that may have been responsible for the phenotype (Tang et al., 2018); This variant is associated with the following publications: (PMID: 29483666) |
| Ambry Genetics | RCV002392825 | SCV002696618 | uncertain significance | Inborn genetic diseases | 2017-11-02 | criteria provided, single submitter | clinical testing | The p.P474A variant (also known as c.1420C>G), located in coding exon 15 of the ATP13A2 gene, results from a C to G substitution at nucleotide position 1420. The proline at codon 474 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002494909 | SCV002778578 | uncertain significance | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2022-02-03 | criteria provided, single submitter | clinical testing |