ClinVar Miner

Submissions for variant NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) (rs387907272)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646119 SCV000767876 uncertain significance Myd88 deficiency 2018-01-05 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 265 of the MYD88 protein (p.Leu265Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs387907272, ExAC 0.02%). This variant has been reported as a somatic mutation in individuals affected with Waldenström’s macroglobulinemia and activated B-cell-like subtype of diffuse large B-cell lymphoma (PMID: 22931316, 21179087). ClinVar contains an entry for this variant (Variation ID: 37055). Experimental studies have shown that this missense change results in tumorigenic gain-of-function effect (PMID: 21179087). 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.
OMIM RCV000030709 SCV000053370 pathogenic Macroglobulinemia, Waldenstrom, somatic 2012-12-06 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443819 SCV000505314 likely pathogenic Non-Hodgkin lymphoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425047 SCV000505315 likely pathogenic Lymphoma 2014-12-26 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431830 SCV000505316 likely pathogenic Chronic lymphocytic leukemia 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442854 SCV000505317 likely pathogenic Multiple myeloma 2016-05-31 no assertion criteria provided literature only

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