ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.721A>G (p.Lys241Glu) (rs267606573)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001366846 SCV001563163 uncertain significance not provided 2020-10-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 241 of the AIP protein (p.Lys241Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs267606573, ExAC 0.008%). This variant has been observed in individual(s) with familial isolated pituitary adenoma (PMID: 17244780). ClinVar contains an entry for this variant (Variation ID: 41200). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on AIP protein function (PMID: 20506337, 19366855). 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.
GeneReviews RCV000034099 SCV000058029 pathologic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Pathogenic.

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