ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp)

dbSNP: rs864309724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000203298 SCV001164407 uncertain significance Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 2018-12-03 criteria provided, single submitter research The heterozygous p.Arg815Trp variant in MECOM was identified by our study in one individual with radioulnar synostosis with amegakaryocytic thrombocytopenia. This variant was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg815Trp variant is uncertain. ACMG/AMP Criteria applied: PM2 (Richards 2015).
Baylor Genetics RCV000203298 SCV001523713 pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 2020-11-18 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000203298 SCV000258421 pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 2015-12-03 no assertion criteria provided literature only

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