ClinVar Miner

Submissions for variant NM_016734.3(PAX5):c.1169G>A (p.Arg390His)

gnomAD frequency: 0.00003  dbSNP: rs771002648
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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 RCV000761044 SCV000890959 uncertain significance Leukemia, acute lymphoblastic, susceptibility to, 3 2021-01-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151144 SCV003839817 uncertain significance not specified 2022-05-23 no assertion criteria provided clinical testing DNA sequence analysis of the PAX5 gene demonstrated a sequence change, c.1169G>A, in exon 10 that results in an amino acid change, p.Arg390His. This sequence change does not appear to have been previously described in individuals with PAX5-related disorders. This sequence change has been described in the gnomAD database in two individuals which corresponds to a population frequency of 0.0008% (dbSNP rs771002648). The p.Arg390His change affects a highly conserved amino acid residue located in a domain of the PAX5 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg390His substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg390His change remains unknown at this time.

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