ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.4518+7A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002472106 SCV002768515 uncertain significance Microcephaly 18, primary, autosomal dominant 2020-05-25 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as VUS – 3B. Following criteria are met: 0102 - Loss-of-function is a likely mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease (OMM, PMID:31327001). (N) 0212 - Non-canonical splice variant without proven consequence on splicing (no functional evidence available) (intron 27 of 67). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0508 - In-silico predictions for abnormal splicing are conflicting. (N) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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