ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.25G>A (p.Gly9Arg) (rs755225286)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460935 SCV000541767 uncertain significance Multiple endocrine neoplasia, type 4 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 9 of the CDKN1B protein (p.Gly9Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs755225286, ExAC 0.006%). This variant has been reported in an individual affected with parathyroid adenomas and primary hyperparathyroidism (PMID: 21289244). ClinVar contains an entry for this variant (Variation ID: 404270). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV001016069 SCV001176981 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-25 criteria provided, single submitter clinical testing Insufficient evidence
Gharavi Laboratory,Columbia University RCV000782207 SCV000920687 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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