ClinVar Miner

Submissions for variant NM_004991.4(MECOM):c.2548C>A (p.Pro850Thr)

gnomAD frequency: 0.00001  dbSNP: rs1727870436
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003672371 SCV004387333 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 662 of the MECOM protein (p.Pro662Thr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with MECOM-related conditions. This variant is not present in population databases (gnomAD no frequency).
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004701766 SCV005205557 uncertain significance Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 2024-08-27 criteria provided, single submitter clinical testing

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