ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.476G>A (p.Ser159Asn)

gnomAD frequency: 0.00001  dbSNP: rs536239840
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002255978 SCV002535445 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-23 criteria provided, single submitter curation
Invitae RCV003094256 SCV003499956 uncertain significance not provided 2023-05-28 criteria provided, single submitter clinical testing 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: 1692753). This variant has not been reported in the literature in individuals affected with AIP-related conditions. This variant is present in population databases (rs536239840, gnomAD 0.007%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 159 of the AIP protein (p.Ser159Asn).
Baylor Genetics RCV003464419 SCV004195982 uncertain significance Somatotroph adenoma 2023-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002255978 SCV005021253 likely benign Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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