ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.226A>G (p.Ile76Val)

gnomAD frequency: 0.00004  dbSNP: rs372657895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433700 SCV000530087 uncertain significance not provided 2024-03-13 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
Ambry Genetics RCV001014992 SCV001175773 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-24 criteria provided, single submitter clinical testing The c.226A>G (p.I76V) alteration is located in exon 2 (coding exon 2) of the AIP gene. This alteration results from a A to G substitution at nucleotide position 226, causing the isoleucine (I) at amino acid position 76 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000433700 SCV001217668 uncertain significance not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 76 of the AIP protein (p.Ile76Val). This variant is present in population databases (rs372657895, gnomAD 0.003%). 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: 387905). 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 with a negative 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 RCV004567921 SCV005059447 uncertain significance Somatotroph adenoma 2024-03-13 criteria provided, single submitter clinical testing

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