ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.591G>A (p.Glu197=) (rs202006716)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568370 SCV000672435 likely benign Hereditary cancer-predisposing syndrome 2019-09-05 criteria provided, single submitter clinical testing Other data supporting benign classification;RNA Studies
Invitae RCV001065292 SCV001230248 uncertain significance not provided 2020-10-15 criteria provided, single submitter clinical testing This sequence change affects codon 197 of the AIP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the AIP protein. This variant is present in population databases (rs202006716, ExAC 0.02%), 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: 26792934, 23371967, 21753072). ClinVar contains an entry for this variant (Variation ID: 41190). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, 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.
Illumina Clinical Services Laboratory,Illumina RCV000034089 SCV001261645 likely benign Somatotroph adenoma 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneReviews RCV000034089 SCV000058019 probable-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely pathogenic.

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