ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.6153+4A>G

dbSNP: rs2126581436
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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 RCV002273073 SCV002557657 uncertain significance Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 2022-02-02 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: 0103 - Loss- and gain-of-function are known mechanisms of disease for this gene. Loss-of-function variants and missense variants within the RhoGEF domain are associated with microcephaly whereas gain-of-function missense variants within the 7th spectrin repeat are associated with macrocephaly (PMID: 32109419). (I) 0107 - This gene is associated with autosomal dominant disease. (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 (both v2 and v3). (SP) 0505 - Splice in silico tool predictions are inconclusive and the affected nucleotide is highly conserved. (I) 0705 - No comparable splice variants have previous evidence for pathogenicity. (I) 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) 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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