Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221569 | SCV001393624 | uncertain significance | Multiple endocrine neoplasia type 4 | 2022-12-15 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 949969). This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 197 of the CDKN1B protein (p.Gln197Arg). |
Sema4, |
RCV002255632 | SCV002527686 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-03 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002255632 | SCV002653267 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-27 | criteria provided, single submitter | clinical testing | The p.Q197R variant (also known as c.590A>G), located in coding exon 2 of the CDKN1B gene, results from an A to G substitution at nucleotide position 590. The glutamine at codon 197 is replaced by arginine, 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. |