ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.383G>A (p.Arg128His) (rs267606550)

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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 RCV001021265 SCV001182857 likely benign Hereditary cancer-predisposing syndrome 2018-05-31 criteria provided, single submitter clinical testing Other strong data supporting benign classification
Invitae RCV001052633 SCV001216854 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 128 of the AIP protein (p.Arg128His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs267606550, ExAC 0.01%). This variant has been observed in individual(s) with acromegaly (PMID: 21753072). ClinVar contains an entry for this variant (Variation ID: 41176). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The histidine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 RCV000034075 SCV000058005 probable-non-pathogenic Somatotroph adenoma 2012-06-21 no assertion criteria provided curation Converted during submission to Likely benign.

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