ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.977G>C (p.Gly326Ala) (rs766054482)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454436 SCV000540680 uncertain significance not specified 2016-10-27 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is classified as DM in HGMD. It has been seen in one patient with Wilms Tumor. It is not classified in ClinVar. The Max MAF in ExAC is 0.002% (1/66600 chromosomes).
Invitae RCV000695577 SCV000824086 uncertain significance Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 321 of the WT1 protein (p.Gly321Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs766054482, ExAC 0.002%). This variant has been reported in an individual affected with Wilms tumor (PMID: 9108089). This variant is also known as Gly253Ala in the literature. ClinVar contains an entry for this variant (Variation ID: 403610). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV001029773 SCV001192551 uncertain significance Nephrotic syndrome, type 4 2019-04-12 no assertion criteria provided clinical testing

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