ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.769A>G (p.Ile257Val) (rs267606575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237723 SCV001410496 uncertain significance not provided 2019-08-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 257 of the AIP protein (p.Ile257Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with AIP-related conditions (PMID: 20685857, 20570174). ClinVar contains an entry for this variant (Variation ID: 41204). This variant has been reported to affect AIP protein function (PMID: 20506337, 27253664, 30941100). 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 RCV000034103 SCV000058033 probable-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely pathogenic.

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