ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.326C>T (p.Ala109Val)

gnomAD frequency: 0.00001  dbSNP: rs548910485
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001019538 SCV001180909 likely benign Hereditary cancer-predisposing syndrome 2022-02-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001057031 SCV001221500 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 109 of the AIP protein (p.Ala109Val). This variant is present in population databases (rs548910485, gnomAD 0.02%). 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: 823358). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004569980 SCV005059585 uncertain significance Somatotroph adenoma 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001057031 SCV005372799 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with somatotropinoma (PMID: 32621582); This variant is associated with the following publications: (PMID: 32621582)

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