ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.160C>T (p.Arg54Trp)

gnomAD frequency: 0.00001  dbSNP: rs752553438
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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 RCV001012406 SCV001172848 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-27 criteria provided, single submitter clinical testing The p.R54W variant (also known as c.160C>T), located in coding exon 2 of the AIP gene, results from a C to T substitution at nucleotide position 160. The arginine at codon 54 is replaced by tryptophan, an amino acid with dissimilar 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 RCV001308762 SCV001498232 uncertain significance not provided 2023-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 54 of the AIP protein (p.Arg54Trp). This variant is present in population databases (rs752553438, 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: 819659). 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.
GeneDx RCV001308762 SCV002005127 uncertain significance not provided 2019-09-16 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003467601 SCV004193584 uncertain significance Somatotroph adenoma 2023-09-02 criteria provided, single submitter clinical testing

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