ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7470+5G>T

dbSNP: rs1555524784
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579280 SCV000681079 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing The c.7470+5 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.7470+5 G>T variant is not observed in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.7470+5 G>T may damage or destroy the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470914 SCV002768105 uncertain significance KBG syndrome 2021-05-06 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3B. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with KBG syndrome (MIM#148050). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0115 - Variants in this gene are known to have variable expressivity. (I) 0212 - Non-canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (v2 and v3). (SP) 0508 - In silico predictions for abnormal splicing are conflicting. (I) 0705 - No comparable splice site variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been reported as a VUS in ClinVar, no condition provided. (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) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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