ClinVar Miner

Submissions for variant NM_006180.6(NTRK2):c.91G>C (p.Ala31Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002919257 SCV003263983 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 31 of the NTRK2 protein (p.Ala31Pro). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with NTRK2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003126260 SCV003803784 likely benign Autism spectrum disorder 2021-02-17 criteria provided, single submitter clinical testing

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