ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.236C>T (p.Thr79Ile)

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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 RCV002450164 SCV002735158 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-29 criteria provided, single submitter clinical testing The p.T79I variant (also known as c.236C>T), located in coding exon 2 of the AIP gene, results from a C to T substitution at nucleotide position 236. The threonine at codon 79 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003730217 SCV004538538 uncertain significance not provided 2024-03-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 79 of the AIP protein (p.Thr79Ile). This variant is not present in population databases (gnomAD no frequency). 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: 1790270). 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 expected to disrupt AIP protein function with a positive 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 RCV004571140 SCV005060255 uncertain significance Somatotroph adenoma 2023-11-03 criteria provided, single submitter clinical testing

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