ClinVar Miner

Submissions for variant NM_002468.5(MYD88):c.586C>T (p.Arg196Cys)

gnomAD frequency: 0.00001  dbSNP: rs137853064
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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 RCV000007924 SCV003523292 uncertain significance Pyogenic bacterial infections due to MyD88 deficiency 2022-04-04 criteria provided, single submitter clinical testing This variant is also known as c.586C>T (p.Arg196Cys) and R196C. ClinVar contains an entry for this variant (Variation ID: 7495). This variant is present in population databases (rs137853064, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of MyD88 deficiency (PMID: 18669862). It has also been observed to segregate with disease in related individuals. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 209 of the MYD88 protein (p.Arg209Cys). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects MYD88 function (PMID: 18669862, 19506249, 24316379). 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 RCV000007924 SCV000028129 pathogenic Pyogenic bacterial infections due to MyD88 deficiency 2008-08-01 no assertion criteria provided literature only

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