ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.406G>T (p.Ala136Ser)

gnomAD frequency: 0.00003  dbSNP: rs775549178
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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 RCV001021802 SCV001183464 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-20 criteria provided, single submitter clinical testing The p.A136S variant (also known as c.406G>T), located in coding exon 3 of the AIP gene, results from a G to T substitution at nucleotide position 406. The alanine at codon 136 is replaced by serine, 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.
Invitae RCV001349329 SCV001543666 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 not expected to disrupt AIP protein function. ClinVar contains an entry for this variant (Variation ID: 824564). This variant has not been reported in the literature in individuals affected with AIP-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 136 of the AIP protein (p.Ala136Ser).
Fulgent Genetics, Fulgent Genetics RCV002505546 SCV002815422 uncertain significance Pituitary dependent hypercortisolism; Somatotroph adenoma 2021-11-18 criteria provided, single submitter clinical testing

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