ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.26G>A (p.Arg9Gln) (rs139459091)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561910 SCV000672425 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-02 criteria provided, single submitter clinical testing Insufficient evidence
Fulgent Genetics,Fulgent Genetics RCV000765005 SCV000896188 uncertain significance Acroleukopathy, symmetric; Pituitary dependent hypercortisolism; Somatotroph adenoma 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001054806 SCV001219159 uncertain significance not provided 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 9 of the AIP protein (p.Arg9Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs139459091, ExAC 0.06%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has been observed in several individuals affected with pituitary adenomas (PMID: 22319033, 26792934, 23038625). ClinVar contains an entry for this variant (Variation ID: 485052). This variant has been reported to affect AIP protein function (PMID: 28255869). 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.

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