ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.530G>C (p.Gly177Ala) (rs146167605)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473629 SCV000541766 uncertain significance Multiple endocrine neoplasia, type 4 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 177 of the CDKN1B protein (p.Gly177Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs146167605, ExAC 0.02%). This variant has not been reported in the literature in individuals with CDKN1B-related disease. ClinVar contains an entry for this variant (Variation ID: 404269). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV001023900 SCV001185842 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-14 criteria provided, single submitter clinical testing Insufficient evidence

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