Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193821 | SCV001362956 | likely benign | not specified | 2019-05-14 | criteria provided, single submitter | clinical testing | Variant summary: ALK c.3091C>T alters a conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 245232 control chromosomes in the gnomAD database, including 1 homozygotes. To our knowledge, no occurrence of c.3091C>T in individuals affected with Neuroblastoma, Susceptibility Type 3 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign. |
| Labcorp Genetics |
RCV001419370 | SCV001621624 | likely benign | Neuroblastoma, susceptibility to, 3 | 2020-06-26 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002320425 | SCV002606383 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |