ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.2836G>A (p.Glu946Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV005055287 SCV005689117 likely pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 2024-07-03 criteria provided, single submitter clinical testing The MECOM c.2467G>A (p.Glu823Lys) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge, functional studies have not been performed. This variant is located in the zinc finger domain/region where other MECOM deleterious variants have been reported (PMID: 29519864; 26581901, 29146883, 29540340). In one family, this variant was found to segregate in multiple affected individuals with radioulnar synostosis, including one individual who presented with thrombocytopenia (PMID: 29519864). The variant is also known as NM_001105078.4:c.2272G>A (p.Glu758Lys). In summary, this variant meets criteria to be classified as likely pathogenic.

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