ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.238A>C (p.Met80Leu)

dbSNP: rs1397533476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001986308 SCV002287207 uncertain significance not provided 2023-03-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1491142). This variant has not been reported in the literature in individuals affected with AIP-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 80 of the AIP protein (p.Met80Leu). 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. 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.
Ambry Genetics RCV002458947 SCV002738425 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-16 criteria provided, single submitter clinical testing The p.M80L variant (also known as c.238A>C), located in coding exon 2 of the AIP gene, results from an A to C substitution at nucleotide position 238. The methionine at codon 80 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004571922 SCV005060234 uncertain significance Somatotroph adenoma 2023-11-17 criteria provided, single submitter clinical testing

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