ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.479C>A (p.Ser160Tyr)

dbSNP: rs770629019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010660 SCV002290532 uncertain significance Multiple endocrine neoplasia type 4 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 160 of the CDKN1B protein (p.Ser160Tyr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDKN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1499433). 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: "Benign"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV004045959 SCV005021774 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-18 criteria provided, single submitter clinical testing The p.S160Y variant (also known as c.479C>A), located in coding exon 2 of the CDKN1B gene, results from a C to A substitution at nucleotide position 479. The serine at codon 160 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002010660 SCV005634203 uncertain significance Multiple endocrine neoplasia type 4 2024-05-02 criteria provided, single submitter clinical testing

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