Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000228085 | SCV000288359 | likely benign | Neuroblastoma, susceptibility to, 3 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000228085 | SCV001304103 | likely benign | Neuroblastoma, susceptibility to, 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Gene |
RCV001566391 | SCV001789901 | uncertain significance | not provided | 2024-03-26 | criteria provided, single submitter | clinical testing | In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
| Prevention |
RCV003417825 | SCV004113099 | uncertain significance | ALK-related disorder | 2022-11-11 | criteria provided, single submitter | clinical testing | The ALK c.4275G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to introduce a cryptic splice site in exon 29 based on splicing prediction programs (Alamut Visual Plus v.1.6.1). However, these prediction programs are not equivalent to functional evidence. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-29416678-C-T) and has conflicting interpretations of pathogenicity in ClinVar ranging from likely benign to uncertain (https://preview.ncbi.nlm.nih.gov/clinvar/variation/239835/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |