ClinVar Miner

Submissions for variant NM_001375883.1(GPR161):c.152C>A (p.Thr51Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004785948 SCV005402150 uncertain significance Medulloblastoma 2024-06-27 criteria provided, single submitter clinical testing The GPR161 c.152C>A (p.Thr51Asn) missense change has a maximum subpopulation frequency of 0.006% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with medulloblastoma. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV005105070 SCV005825872 uncertain significance not provided 2024-12-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 71 of the GPR161 protein (p.Thr71Asn). This variant is present in population databases (rs201148299, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GPR161-related conditions. 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.

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