ClinVar Miner

Submissions for variant NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter)

dbSNP: rs2148138686
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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 RCV002272886 SCV002557330 uncertain significance Hypoplastic left heart syndrome 2022-09-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3A. Following criteria are met: 0102 - Loss of function is a reported mechanism of disease in this gene and is associated with hypoplastic left heart syndrome (MONDO#0004933) (PMIDs: 26785492, 27485310, 27670201, 35137168). However, the gene-disease association has not been established conclusively (PanelApp Australia). (I) 0107 - This gene is associated with autosomal dominant disease. However, the gene-disease association has not been established conclusively (PanelApp Australia). (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0703 - Other premature termination variants comparable to the one identified in this case have moderate previous evidence for pathogenicity. Several other NMD-predicted variants in this gene have been reported, including two as de novo in individuals with hypoplastic left heart syndrome (PMIDs: 26785492, 32368696), one as pathogenic but without clear phenotypic information provided (ClinVar), and one as VUS without further information provided (LOVD). (SP) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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