ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1020_1021delinsAC (p.His340_Ser341delinsGlnArg) (rs1564975891)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705625 SCV000834631 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2018-06-05 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides and inserts 2 different nucleotides in exon 6 of the WT1 mRNA (c.1005_1006delCAinsAC). This results in the replacement of 2 adjacent amino acids at codons 335 and 336 with 2 different amino acids (p.His335_Ser336delinsGlnArg). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with WT1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids 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.

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