ClinVar Miner

Submissions for variant NM_016373.4(WWOX):c.*200GGGCT[1]

dbSNP: rs144412859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591177 SCV001817331 likely benign not provided 2020-05-29 criteria provided, single submitter clinical testing
Mendelics RCV000520526 SCV002516810 likely benign not specified 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001591177 SCV003917537 benign not provided 2024-08-01 criteria provided, single submitter clinical testing WWOX: BS1, BS2
GeneDx RCV000520526 SCV000617174 uncertain significance not specified 2017-07-21 flagged submission clinical testing The c.*205_*209delGGGCT variant, located in the 3 prime untranslated region of the WWOX gene, has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. In-silico splice prediction models predict that c.*205_*209delGGGCT does not impact splicing. However, in the absence of RNA/functional studies, the actual effect of the c.*205_*209delGGGCT change in this individual is unknown. The c.*205_*209delGGGCT variant occurs at a region that is not conserved among species. No data are available from control populations to assess the frequency of this variant. We interpret c.*205_*209delGGGCT as a variant of uncertain significance.

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