ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.965C>T (p.Ala322Val) (rs267606586)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061414 SCV001226157 uncertain significance not provided 2020-10-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 322 of the AIP protein (p.Ala322Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs267606586, ExAC 0.03%). This variant has not been reported in the literature in individuals with AIP-related conditions. ClinVar contains an entry for this variant (Variation ID: 41216). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000034115 SCV000058045 probable-non-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely benign.

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