Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000336961 | SCV000366739 | uncertain significance | Short rib-polydactyly syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000403491 | SCV000366740 | uncertain significance | Asphyxiating thoracic dystrophy 3 | 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. |
| ARUP Laboratories, |
RCV000756056 | SCV000883768 | uncertain significance | not provided | 2018-02-13 | criteria provided, single submitter | clinical testing | The DYNC2H1 c.7462G>A; p.Asp2488Asn variant (rs201825699), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.03% (identified on 71 out of 268,962 chromosomes) and is classified as a variant of unknown significance in ClinVar (ID: 302062). The aspartic acide at position 2488 is highly conserved, considering 28 species, and computational analyses of the effects of the p.Asp2488Asn variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Asp2488Asn variant cannot be determined with certainty. |
| Invitae | RCV002056168 | SCV002359880 | likely benign | Jeune thoracic dystrophy | 2024-01-29 | criteria provided, single submitter | clinical testing |