ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.812del (p.Pro271fs)

dbSNP: rs1060501253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469904 SCV000545487 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1 2016-06-12 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 3 of the WT1 mRNA (c.797delC), causing a frameshift at codon 266. This creates a premature translational stop signal (p.Pro266Argfs*20) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in WT1 are known to be pathogenic (PMID: 15150775). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001381624 SCV001580102 pathogenic Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2016-06-12 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in WT1 are known to be pathogenic (PMID: 15150775). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 3 of the WT1 mRNA (c.797delC), causing a frameshift at codon 266. This creates a premature translational stop signal (p.Pro266Argfs*20) and is expected to result in an absent or disrupted protein product.

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