ClinVar Miner

Submissions for variant NM_001372076.1(PAX9):c.346A>T (p.Asn116Tyr)

dbSNP: rs1398460057
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222484 SCV001394583 uncertain significance Hypodontia 2019-06-13 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with tyrosine at codon 116 of the PAX9 protein (p.Asn116Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant has not been reported in the literature in individuals with PAX9-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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