ClinVar Miner

Submissions for variant NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu)

gnomAD frequency: 0.00007  dbSNP: rs752909152
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839087 SCV002098989 uncertain significance Pancytopenia due to IKZF1 mutations 2021-03-26 criteria provided, single submitter clinical testing The c.1076C>T, p.Pro359Leu missense variant identified in IKZF1 has not been reported in the literature. This variant has ten heterozygous alleles in the gnomADv3 database, indicating this is a rare variant. The substitution occurs at a position that is not highly conserved across species and in silico tools provide conflicting evidence of pathogenicity. Based on the available evidence, the missense variant c.1076C>T, p.Pro359Leu in the IKZF1 gene is classified as a Variant of Uncertain Significance.

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