ClinVar Miner

Submissions for variant NM_001372076.1(PAX9):c.259A>T (p.Ile87Phe)

dbSNP: rs104894468
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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 RCV000704798 SCV000833765 uncertain significance Hypodontia 2018-07-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 87 of the PAX9 protein (p.Ile87Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. 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. Experimental studies have shown that this missense change impairs protein stability and DNA binding activities of the PAX9 protien (PMID: 16479262). This variant has been observed to segregate with oligodontia in one family (PMID: 16479262). ClinVar contains an entry for this variant (Variation ID: 13775). This variant is not present in population databases (ExAC no frequency).
OMIM RCV000014785 SCV000035040 pathogenic Tooth agenesis, selective, 3 2009-08-01 no assertion criteria provided literature only

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