ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.249G>T (p.Gly83=) (rs104895072)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341743 SCV001535632 uncertain significance not provided 2020-02-19 criteria provided, single submitter clinical testing This sequence change affects codon 83 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 not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with pituitary adenomas (PMID: 20506337). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41169). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 20506337). 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 RCV000034068 SCV000057998 probable-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely pathogenic.

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