ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.485C>T (p.Thr162Met)

dbSNP: rs764344774
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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 RCV001023160 SCV001184992 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-24 criteria provided, single submitter clinical testing The p.T162M variant (also known as c.485C>T), located in coding exon 4 of the AIP gene, results from a C to T substitution at nucleotide position 485. The threonine at codon 162 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001320614 SCV001511409 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 162 of the AIP protein (p.Thr162Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 825235). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV003461396 SCV004195905 uncertain significance Somatotroph adenoma 2024-02-18 criteria provided, single submitter clinical testing

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