ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.532G>A (p.Ala178Thr)

gnomAD frequency: 0.00001  dbSNP: rs762351007
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321119 SCV001511935 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing This variant is present in population databases (rs762351007, gnomAD 0.009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 178 of the AIP protein (p.Ala178Thr). This variant has not been reported in the literature in individuals affected with AIP-related conditions. 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: 1021367).
Baylor Genetics RCV004570770 SCV005059580 uncertain significance Somatotroph adenoma 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619633 SCV005117485 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-16 criteria provided, single submitter clinical testing The p.A178T variant (also known as c.532G>A), located in coding exon 4 of the AIP gene, results from a G to A substitution at nucleotide position 532. The alanine at codon 178 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
GeneDx RCV001321119 SCV005379615 uncertain significance not provided 2023-11-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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