ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1089_1090delinsAA (p.His364Asn)

dbSNP: rs2132957418
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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 RCV001990786 SCV002258349 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2021-03-13 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant has not been reported in the literature in individuals with WT1-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces histidine with asparagine at codon 359 of the WT1 protein (p.His359Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine.

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