ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.299A>G (p.Lys100Arg) (rs774291520)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814651 SCV000955068 uncertain significance Multiple endocrine neoplasia, type 4 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 100 of the CDKN1B protein (p.Lys100Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs774291520, ExAC 0.002%). This variant has not been reported in the literature in individuals with CDKN1B-related disease. Experimental studies have shown that this missense change causes loss of an acetylation site which in turn decreases stability of the CDKN1B protein (PMID: 22547391). 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 RCV001017873 SCV001179036 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-06 criteria provided, single submitter clinical testing Insufficient evidence

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