ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.116G>A (p.Arg39Gln)

gnomAD frequency: 0.00001  dbSNP: rs139947406
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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 RCV001010102 SCV001170250 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-03 criteria provided, single submitter clinical testing The p.R39Q variant (also known as c.116G>A), located in coding exon 2 of the AIP gene, results from a G to A substitution at nucleotide position 116. The arginine at codon 39 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001234957 SCV001407620 uncertain significance not provided 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 39 of the AIP protein (p.Arg39Gln). This variant is present in population databases (rs139947406, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AIP-related conditions. ClinVar contains an entry for this variant (Variation ID: 818481). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AIP protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV004569863 SCV005059490 uncertain significance Somatotroph adenoma 2024-02-29 criteria provided, single submitter clinical testing

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