ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.151G>A (p.Asp51Asn)

dbSNP: rs1591042638
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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 RCV001011963 SCV001172355 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-24 criteria provided, single submitter clinical testing The p.D51N variant (also known as c.151G>A), located in coding exon 2 of the AIP gene, results from a G to A substitution at nucleotide position 151. The aspartic acid at codon 51 is replaced by asparagine, 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 RCV001247747 SCV001421188 uncertain significance not provided 2023-12-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 51 of the AIP protein (p.Asp51Asn). 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: 819423). 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 RCV003461321 SCV004195993 uncertain significance Somatotroph adenoma 2023-05-30 criteria provided, single submitter clinical testing

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