Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001027044 | SCV001189543 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-06 | criteria provided, single submitter | clinical testing | The c.-7G>C variant is located in the 5' untranslated region (5’ UTR) of the CDKN1B gene. This variant results from a G to C substitution 7 bases upstream from the first translated codon. This alteration has been identified in a proband with a parathyroid tumor and 2 additional unspecified tumors related to multiple endocrine neoplasia type 1; it was also identified in her two asymptomatic daughters. Functional studies on this variant showed mRNA levels similar to wild-type, but also demonstrated a reduction of p27 protein levels to 6% of wild-type (Agarwal S et al. J. Clin. Endocrinol. Metab. 2009 May;94(5):1826-34). This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Illumina Laboratory Services, |
RCV001112161 | SCV001269788 | uncertain significance | Multiple endocrine neoplasia type 4 | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |