ClinVar Miner

Submissions for variant NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470347 SCV002767119 likely pathogenic Cardiospondylocarpofacial 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 Likely Pathogenic. Following criteria are met: 0103 - Loss of function and gain of function are known mechanisms of disease in this gene. Missense and inframe deletion variants shown to result in loss of function have been associated with cardiospondylocarpofacial (CSCF; MIM#157800) (PMID: 27426734), whereas missense variants causing gain of function have been associated with frontometaphyseal dysplasia 2 (FMD; MIM#617137) (PMID: 27426733). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from aspartic acid to asparagine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0502 - Missense variant with conflicting in silico predictions and uninformative conservation. (I) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants within the catalytic domain of the serine/threonine kinase (NCBI). (SP) 0705 - No comparable missense 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) 1204 - This variant has been shown to be de novo in the affected mother of this proband (parental status not tested but assumed). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV002470347 SCV004806238 uncertain significance Cardiospondylocarpofacial syndrome 2024-03-25 criteria provided, single submitter clinical testing

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