ClinVar Miner

Submissions for variant NM_004064.5(CDKN1B):c.383C>G (p.Thr128Arg)

dbSNP: rs761235464
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000820672 SCV000961393 uncertain significance Multiple endocrine neoplasia type 4 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 128 of the CDKN1B protein (p.Thr128Arg). 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: 662922). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002363157 SCV002624641 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-16 criteria provided, single submitter clinical testing The p.T128R variant (also known as c.383C>G), located in coding exon 1 of the CDKN1B gene, results from a C to G substitution at nucleotide position 383. The threonine at codon 128 is replaced by arginine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other vertebrate species. 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.
Baylor Genetics RCV000820672 SCV004212407 uncertain significance Multiple endocrine neoplasia type 4 2023-07-10 criteria provided, single submitter clinical testing
GeneDx RCV004773196 SCV005382930 uncertain significance not provided 2024-02-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000820672 SCV005634199 uncertain significance Multiple endocrine neoplasia type 4 2024-01-12 criteria provided, single submitter clinical testing

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